MACF1
microtubule actin crosslinking factor 1
Summary
This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
Known Variants1,126 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199946219 | 1:39,549,882 | G/A | — | likely benign |
| rs200446050 | 1:39,549,925 | G/A | — | conflicting classifications of pathogenicity |
| rs369843705 | 1:39,549,942 | C/T | — | uncertain significance |
| rs772416849 | 1:39,549,969 | A/G | — | uncertain significance |
| rs569144164 | 1:39,549,974 | C/T | — | likely benign |
| rs765180561 | 1:39,549,979 | G/A | — | uncertain significance |
| rs3736890 | 1:39,549,983 | A/G | — | benign |
| rs758748206 | 1:39,550,035 | C/A | — | conflicting classifications of pathogenicity |
| rs746680747 | 1:39,550,053 | C/T | — | uncertain significance |
| rs768273900 | 1:39,550,069 | C/T | — | conflicting classifications of pathogenicity |
| rs375441750 | 1:39,550,070 | G/A | — | likely benign |
| rs1265155778 | 1:39,550,125 | C/G | — | likely benign |
| rs117942915 | 1:39,550,138 | C/T | — | benign |
| rs260972 | 1:39,550,210 | C/T | — | benign |
| rs76104968 | 1:39,550,261 | C/T | — | benign |
| rs72637903 | 1:39,561,884 | G/A | intron variant | — |
| rs260975 | 1:39,564,890 | C/T | intron variant | — |
| rs4660416 | 1:39,578,986 | A/C | — | — |
| rs1472662 | 1:39,590,409 | G/C | — | — |
| rs4660443 | 1:39,591,779 | C/T | intron variant | — |
| rs67916282 | 1:39,602,755 | T/A | intron variant | — |
| rs10888682 | 1:39,623,307 | A/G | — | — |
| rs560372 | 1:39,644,067 | G/A | regulatory region variant | — |
| rs903391718 | 1:39,645,516 | G/A | — | — |
| rs57214150 | 1:39,654,372 | G/C | intron variant | — |
| rs12076577 | 1:39,656,073 | G/T | — | — |
| rs67020650 | 1:39,668,015 | T/C | upstream gene variant | — |
| rs72661925 | 1:39,669,537 | T/A | upstream gene variant | — |
| rs1112365 | 1:39,696,644 | G/A | — | benign |
| rs2490951 | 1:39,696,647 | G/A | — | benign |
| rs1932507 | 1:39,696,718 | C/A | — | benign |
| rs149539890 | 1:39,696,882 | G/A | — | likely benign |
| rs1644773843 | 1:39,696,917 | T/C | — | uncertain significance |
| rs1407777780 | 1:39,696,918 | A/C | — | uncertain significance |
| rs80093081 | 1:39,698,437 | T/G | — | — |
| rs60323161 | 1:39,710,459 | T/C | intron variant | — |
| rs66727439 | 1:39,711,930 | C/T | downstream gene variant | — |
| rs541379944 | 1:39,715,683 | C/T | — | uncertain significance |
| rs143548063 | 1:39,715,702 | A/G | — | conflicting classifications of pathogenicity |
| rs2522889961 | 1:39,715,704 | G/T | — | uncertain significance |
| rs377731994 | 1:39,715,722 | C/T | — | uncertain significance |
| rs1645023447 | 1:39,715,746 | C/G | — | uncertain significance |
| rs148817607 | 1:39,717,592 | G/A | — | benign |
| rs66880209 | 1:39,719,812 | G/A | — | benign |
| rs1645074548 | 1:39,719,970 | C/G | — | uncertain significance |
| rs1049453803 | 1:39,719,998 | A/G | — | uncertain significance |
| rs2522913879 | 1:39,720,042 | C/T | — | uncertain significance |
| rs779968751 | 1:39,720,043 | G/A | — | conflicting classifications of pathogenicity |
| rs7545369 | 1:39,723,589 | G/A | — | benign |
| rs199655004 | 1:39,723,594 | T/C | — | likely benign |
| rs2522932544 | 1:39,723,612 | A/C | — | uncertain significance |
| rs72661940 | 1:39,728,647 | C/T | — | — |
| rs148853384 | 1:39,734,438 | A/G | — | benign |
| rs41270797 | 1:39,735,094 | G/A | — | benign |
| rs1235613599 | 1:39,742,825 | G/A | — | — |
| rs1378951832 | 1:39,747,895 | A/G | — | uncertain significance |
| rs147380893 | 1:39,747,933 | A/G | — | likely benign |
| rs1172957851 | 1:39,747,947 | C/T | — | uncertain significance |
| rs908223967 | 1:39,747,972 | A/G | — | likely benign |
| rs2523104014 | 1:39,747,978 | C/G | — | uncertain significance |
| rs2523104115 | 1:39,747,998 | C/T | — | uncertain significance |
| rs747720028 | 1:39,748,040 | G/A | — | likely benign |
| rs12089090 | 1:39,748,128 | T/C | — | benign |
| rs74066729 | 1:39,748,234 | C/T | — | benign |
| rs41270799 | 1:39,748,662 | G/A | — | benign |
| rs74066731 | 1:39,748,785 | A/G | — | benign |
| rs1645586504 | 1:39,748,886 | G/T | — | uncertain significance |
| rs371386732 | 1:39,748,909 | G/T | — | conflicting classifications of pathogenicity |
| rs2275188 | 1:39,748,921 | G/A | — | benign |
| rs750531511 | 1:39,748,957 | C/T | — | likely benign |
| rs763756107 | 1:39,749,094 | A/G | — | likely benign |
| rs2521350443 | 1:39,749,124 | T/C | — | likely benign |
| rs2521350450 | 1:39,749,126 | T/G | — | uncertain significance |
| rs769929928 | 1:39,749,171 | A/G | — | conflicting classifications of pathogenicity |
| rs2521351206 | 1:39,749,173 | G/A | — | uncertain significance |
| rs2521361205 | 1:39,749,746 | C/T | — | likely benign |
| rs1421294586 | 1:39,749,755 | G/T | — | uncertain significance |
| rs2521361918 | 1:39,749,758 | A/G | — | likely benign |
| rs374378896 | 1:39,749,785 | C/T | — | likely benign |
| rs143546862 | 1:39,749,801 | C/G | — | likely benign |
| rs2039597 | 1:39,749,884 | T/G | — | benign |
| rs1225527817 | 1:39,750,023 | A/C | — | uncertain significance |
| rs1645606671 | 1:39,750,087 | A/G | — | uncertain significance |
| rs74066732 | 1:39,750,198 | A/G | — | benign |
| rs566899522 | 1:39,750,766 | A/G | — | likely benign |
| rs2521376002 | 1:39,750,770 | G/C | — | uncertain significance |
| rs775349137 | 1:39,750,775 | A/C | — | likely benign |
| rs760522659 | 1:39,750,780 | A/T | — | conflicting classifications of pathogenicity |
| rs750656239 | 1:39,750,786 | C/T | — | uncertain significance |
| rs532990896 | 1:39,750,852 | G/T | — | uncertain significance |
| rs778364941 | 1:39,750,867 | G/A | — | uncertain significance |
| rs759743724 | 1:39,750,998 | A/C | — | uncertain significance |
| rs754235741 | 1:39,751,040 | T/C | — | likely benign |
| rs1645628185 | 1:39,751,279 | G/C | — | likely benign |
| rs765555296 | 1:39,751,298 | G/C | — | likely benign |
| rs138060421 | 1:39,751,304 | C/T | — | conflicting classifications of pathogenicity |
| rs1645629238 | 1:39,751,372 | G/A | — | uncertain significance |
| rs1410023225 | 1:39,751,375 | G/C | — | uncertain significance |
| rs750820901 | 1:39,751,383 | G/C | — | uncertain significance |
| rs2521385065 | 1:39,751,400 | A/C | — | uncertain significance |
Showing 100 of 1,126 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.