LARP4B
La ribonucleoprotein 4B
Summary
This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs771715315 | 10:858,882 | G/C | — | uncertain significance |
| rs373554864 | 10:858,930 | G/A | — | uncertain significance |
| rs372386187 | 10:858,933 | G/T | — | uncertain significance |
| rs1209653477 | 10:858,936 | C/T | — | uncertain significance |
| rs775911921 | 10:859,003 | G/A | — | uncertain significance |
| rs2131588406 | 10:859,004 | G/T | — | uncertain significance |
| rs2491138280 | 10:859,064 | C/G | — | uncertain significance |
| rs144565605 | 10:859,076 | T/C | — | benign |
| rs191452329 | 10:860,344 | C/T | intron variant | — |
| rs201513199 | 10:860,726 | T/C | — | uncertain significance |
| rs373303689 | 10:860,766 | C/G | — | uncertain significance |
| rs764944858 | 10:860,790 | A/T | — | likely benign |
| rs752909611 | 10:860,911 | A/T | — | uncertain significance |
| rs145450206 | 10:860,922 | G/A | — | uncertain significance |
| rs760530812 | 10:860,968 | C/A | — | uncertain significance |
| rs61731095 | 10:860,970 | A/G | — | likely benign |
| rs144883024 | 10:860,990 | G/A | — | benign |
| rs567923276 | 10:863,697 | A/G | — | uncertain significance |
| rs1475333083 | 10:863,724 | T/G | — | uncertain significance |
| rs772625362 | 10:863,783 | C/T | — | uncertain significance |
| rs749040036 | 10:863,808 | T/C | — | uncertain significance |
| rs2491228286 | 10:871,004 | C/T | — | uncertain significance |
| rs367827564 | 10:871,053 | C/T | — | uncertain significance |
| rs765964052 | 10:871,056 | C/T | — | uncertain significance |
| rs140223312 | 10:871,110 | G/A | — | uncertain significance |
| rs2491229815 | 10:871,144 | C/A | — | likely pathogenic |
| rs780140835 | 10:871,158 | C/T | — | uncertain significance |
| rs372744681 | 10:871,180 | T/C | — | uncertain significance |
| rs138081905 | 10:871,227 | G/A | — | uncertain significance |
| rs61830900 | 10:871,481 | C/G | intron variant | — |
| rs2491235809 | 10:871,714 | G/A | — | uncertain significance |
| rs148251856 | 10:871,746 | G/A | — | uncertain significance |
| rs1832593778 | 10:871,794 | T/C | — | uncertain significance |
| rs79707128 | 10:871,816 | T/A | — | benign |
| rs144611807 | 10:875,350 | G/A | — | uncertain significance |
| rs765381459 | 10:875,362 | G/A | — | uncertain significance |
| rs11812859 | 10:879,219 | A/T | — | — |
| rs139387430 | 10:888,899 | C/T | — | likely benign |
| rs150067638 | 10:888,916 | T/C | — | uncertain significance |
| rs34487581 | 10:897,201 | G/A | intron variant | — |
| rs767741069 | 10:909,743 | T/C | — | uncertain significance |
| rs375571598 | 10:909,779 | C/T | — | uncertain significance |
| rs757969026 | 10:910,075 | G/A | — | likely benign |
| rs2491512524 | 10:910,134 | C/T | — | uncertain significance |
| rs17159964 | 10:913,064 | G/C | — | — |
| rs2038933 | 10:917,799 | G/C | — | likely benign |
| rs546894437 | 10:918,346 | C/A | — | likely benign |
| rs12264711 | 10:929,525 | T/C | intron variant | — |
| rs1330068699 | 10:931,643 | C/T | — | likely benign |
| rs12240651 | 10:943,656 | A/T | — | — |
| rs56318703 | 10:955,506 | C/T | intron variant | — |
| rs1106064 | 10:957,211 | G/A | intron variant | — |
| rs12264390 | 10:959,111 | T/A | — | — |
| rs12762973 | 10:960,761 | C/A | — | — |
| rs12360270 | 10:962,364 | G/A | intron variant | — |
| rs12354639 | 10:963,681 | G/A | intron variant | — |
| rs11253511 | 10:964,832 | C/T | intron variant | — |
| rs12777021 | 10:967,270 | T/C | intron variant | — |
| rs1539174 | 10:974,870 | C/G | upstream gene variant | — |
| rs35693858 | 10:979,813 | C/A | — | — |
| rs56347655 | 10:980,030 | C/T | upstream gene variant | — |
| rs12359645 | 10:981,881 | A/T | upstream gene variant | — |
| rs12783472 | 10:983,033 | A/G | intron variant | — |
| rs35306767 | 10:989,437 | A/T | regulatory region variant | — |
| rs12354914 | 10:991,208 | C/A | — | — |
| rs56112517 | 10:992,749 | T/A | downstream gene variant | — |
| rs11253530 | 10:993,729 | T/C | intergenic variant | — |
| rs12357246 | 10:994,385 | T/A | intergenic variant | — |
| rs77514582 | 10:1,011,606 | C/T | intergenic variant | — |
| rs76466618 | 10:1,018,867 | C/T | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.