PRX
periaxin
Summary
This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]
Known Variants1,101 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs77958337 | 19:40,899,644 | T/C | — | benign |
| rs1020596240 | 19:40,899,705 | G/T | — | uncertain significance |
| rs886054435 | 19:40,899,721 | T/C | — | uncertain significance |
| rs189487790 | 19:40,899,729 | G/A | — | likely benign |
| rs200778472 | 19:40,899,828 | G/A | — | uncertain significance |
| rs1429618418 | 19:40,899,878 | C/T | — | likely benign |
| rs2514796543 | 19:40,899,880 | G/A | — | uncertain significance |
| rs377062046 | 19:40,899,882 | C/T | — | likely benign |
| rs373051724 | 19:40,899,883 | G/A | — | uncertain significance |
| rs149093940 | 19:40,899,893 | C/G | — | uncertain significance |
| rs2079402966 | 19:40,899,894 | C/T | — | likely benign |
| rs2145724458 | 19:40,899,907 | G/A | — | uncertain significance |
| rs768051108 | 19:40,899,909 | C/T | — | likely benign |
| rs369949312 | 19:40,899,910 | G/A | — | uncertain significance |
| rs143125201 | 19:40,899,916 | G/A | — | uncertain significance |
| rs757627373 | 19:40,899,924 | T/C | — | likely benign |
| rs746338096 | 19:40,899,925 | G/A | — | uncertain significance |
| rs368067072 | 19:40,899,926 | T/C | — | uncertain significance |
| rs2079403438 | 19:40,899,929 | C/G | — | uncertain significance |
| rs138437458 | 19:40,899,941 | C/T | — | uncertain significance |
| rs372280596 | 19:40,899,942 | G/A | — | conflicting classifications of pathogenicity |
| rs2079403599 | 19:40,899,943 | C/A | — | uncertain significance |
| rs770666481 | 19:40,899,947 | G/C | — | uncertain significance |
| rs368827070 | 19:40,899,952 | C/T | — | uncertain significance |
| rs1332674327 | 19:40,899,953 | G/A | — | uncertain significance |
| rs878855285 | 19:40,899,955 | A/G | — | uncertain significance |
| rs1381516933 | 19:40,899,956 | C/T | — | uncertain significance |
| rs759435622 | 19:40,899,958 | C/T | — | uncertain significance |
| rs767488196 | 19:40,899,959 | G/A | — | uncertain significance |
| rs1347473458 | 19:40,899,969 | C/G | — | uncertain significance |
| rs2079404031 | 19:40,899,971 | C/A | — | uncertain significance |
| rs2145724616 | 19:40,899,974 | C/T | — | uncertain significance |
| rs2145724629 | 19:40,899,976 | T/G | — | uncertain significance |
| rs2514796858 | 19:40,899,979 | T/C | — | uncertain significance |
| rs2079404139 | 19:40,899,980 | C/A | — | uncertain significance |
| rs2079404176 | 19:40,899,985 | C/G | — | uncertain significance |
| rs754032938 | 19:40,899,989 | C/T | — | uncertain significance |
| rs2145724650 | 19:40,899,991 | C/T | — | uncertain significance |
| rs895345246 | 19:40,899,992 | T/G | — | uncertain significance |
| rs142436702 | 19:40,899,994 | C/T | — | uncertain significance |
| rs375802521 | 19:40,900,006 | C/T | — | uncertain significance |
| rs777172895 | 19:40,900,008 | T/C | — | likely benign |
| rs201222650 | 19:40,900,016 | C/T | — | uncertain significance |
| rs2145724711 | 19:40,900,019 | T/C | — | uncertain significance |
| rs1005254872 | 19:40,900,027 | C/A | — | uncertain significance |
| rs533966999 | 19:40,900,028 | G/A | — | uncertain significance |
| rs1555800370 | 19:40,900,035 | G/C | — | likely benign |
| rs146468976 | 19:40,900,040 | A/C | — | uncertain significance |
| rs139051512 | 19:40,900,052 | C/T | — | uncertain significance |
| rs771992595 | 19:40,900,053 | G/A | — | likely benign |
| rs760540823 | 19:40,900,059 | C/T | — | likely benign |
| rs1296150158 | 19:40,900,060 | T/C | — | uncertain significance |
| rs764183288 | 19:40,900,063 | G/A | — | uncertain significance |
| rs566745894 | 19:40,900,073 | C/T | — | uncertain significance |
| rs1259617945 | 19:40,900,074 | G/A | — | likely benign |
| rs2514797196 | 19:40,900,076 | C/T | — | uncertain significance |
| rs1486029743 | 19:40,900,079 | C/T | — | uncertain significance |
| rs1240821854 | 19:40,900,083 | C/T | — | likely benign |
| rs983272464 | 19:40,900,086 | C/T | — | likely benign |
| rs917161355 | 19:40,900,087 | C/G | — | uncertain significance |
| rs369072136 | 19:40,900,088 | G/C | — | uncertain significance |
| rs2514797240 | 19:40,900,090 | G/C | — | uncertain significance |
| rs752060706 | 19:40,900,094 | C/T | — | uncertain significance |
| rs372582520 | 19:40,900,102 | G/T | — | uncertain significance |
| rs756887163 | 19:40,900,107 | C/T | — | likely benign |
| rs201618230 | 19:40,900,108 | G/A | — | uncertain significance |
| rs2079405908 | 19:40,900,113 | G/A | — | likely benign |
| rs142978341 | 19:40,900,120 | C/T | — | uncertain significance |
| rs771840476 | 19:40,900,121 | G/A | — | uncertain significance |
| rs2079406117 | 19:40,900,125 | C/T | — | likely benign |
| rs2514797355 | 19:40,900,126 | A/G | — | uncertain significance |
| rs2145724900 | 19:40,900,128 | G/T | — | likely benign |
| rs200835105 | 19:40,900,129 | C/T | — | uncertain significance |
| rs768524850 | 19:40,900,130 | G/A | — | uncertain significance |
| rs762053224 | 19:40,900,135 | C/T | — | uncertain significance |
| rs1049231899 | 19:40,900,136 | G/A | — | uncertain significance |
| rs773512610 | 19:40,900,138 | A/C | — | uncertain significance |
| rs763294661 | 19:40,900,141 | C/T | — | uncertain significance |
| rs766729202 | 19:40,900,142 | G/A | — | uncertain significance |
| rs751906783 | 19:40,900,144 | C/A | — | uncertain significance |
| rs377009047 | 19:40,900,147 | C/T | — | uncertain significance |
| rs753339248 | 19:40,900,148 | G/A | — | uncertain significance |
| rs2145724978 | 19:40,900,149 | G/T | — | likely benign |
| rs756687548 | 19:40,900,150 | C/T | — | uncertain significance |
| rs371438221 | 19:40,900,151 | G/T | — | conflicting classifications of pathogenicity |
| rs768636520 | 19:40,900,156 | G/A | — | uncertain significance |
| rs781209926 | 19:40,900,158 | G/A | — | likely benign |
| rs748112276 | 19:40,900,162 | C/T | — | uncertain significance |
| rs1481896317 | 19:40,900,169 | C/T | — | uncertain significance |
| rs1197436795 | 19:40,900,171 | C/T | — | uncertain significance |
| rs1555800424 | 19:40,900,201 | T/G | — | uncertain significance |
| rs150914430 | 19:40,900,202 | C/T | — | uncertain significance |
| rs755440905 | 19:40,900,203 | G/A | — | likely benign |
| rs771104050 | 19:40,900,211 | G/A | — | uncertain significance |
| rs759882475 | 19:40,900,212 | G/A | — | likely benign |
| rs76088917 | 19:40,900,215 | C/G | — | likely benign |
| rs2514797715 | 19:40,900,224 | A/T | — | likely benign |
| rs2079407989 | 19:40,900,229 | C/T | — | uncertain significance |
| rs764686564 | 19:40,900,231 | A/G | — | uncertain significance |
| rs758057597 | 19:40,900,242 | G/T | — | uncertain significance |
Showing 100 of 1,101 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.