FRMD5
FERM domain containing 5
Summary
Enables integrin binding activity and protein kinase binding activity. Involved in negative regulation of cell motility; positive regulation of cell adhesion; and regulation of cell migration. Located in adherens junction. Implicated in neurodevelopmental disorder with eye movement abnormalities and ataxia. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs756855308 | 15:44,166,100 | G/T | — | uncertain significance |
| rs1298733777 | 15:44,166,109 | C/G | — | uncertain significance |
| rs201700276 | 15:44,166,135 | C/T | — | uncertain significance |
| rs1006096376 | 15:44,166,159 | T/C | — | uncertain significance |
| rs763937333 | 15:44,166,183 | G/T | — | uncertain significance |
| rs2508222222 | 15:44,166,274 | T/A | — | uncertain significance |
| rs145058047 | 15:44,166,288 | C/T | — | uncertain significance |
| rs759014211 | 15:44,166,405 | G/A | — | uncertain significance |
| rs2508226433 | 15:44,166,417 | T/A | — | uncertain significance |
| rs2088258506 | 15:44,166,487 | C/T | — | uncertain significance |
| rs2508228310 | 15:44,166,492 | A/G | — | uncertain significance |
| rs572548037 | 15:44,166,502 | G/A | — | uncertain significance |
| rs754227679 | 15:44,166,508 | C/T | — | uncertain significance |
| rs758583807 | 15:44,166,517 | C/T | — | uncertain significance |
| rs61735012 | 15:44,166,518 | A/G | — | benign |
| rs1203597307 | 15:44,166,630 | G/A | — | uncertain significance |
| rs2508233303 | 15:44,166,655 | C/G | — | uncertain significance |
| rs371269803 | 15:44,175,946 | C/T | — | uncertain significance |
| rs376593528 | 15:44,175,956 | C/G | — | uncertain significance |
| rs2508377270 | 15:44,175,963 | C/T | — | uncertain significance |
| rs751184580 | 15:44,175,976 | A/G | — | pathogenic |
| rs2140355019 | 15:44,175,982 | A/G | — | uncertain significance |
| rs2140355031 | 15:44,175,983 | G/C | — | uncertain significance |
| rs2508377566 | 15:44,175,984 | C/T | — | likely pathogenic |
| rs2508377588 | 15:44,175,985 | T/C | — | pathogenic |
| rs2140355061 | 15:44,175,991 | T/G | — | conflicting classifications of pathogenicity |
| rs191718161 | 15:44,180,437 | C/T | — | uncertain significance |
| rs771568540 | 15:44,184,206 | C/T | — | uncertain significance |
| rs2508448618 | 15:44,184,213 | G/C | — | uncertain significance |
| rs148406804 | 15:44,194,397 | A/G | — | benign |
| rs2508516665 | 15:44,194,428 | A/C | — | uncertain significance |
| rs139260307 | 15:44,198,035 | G/A | — | likely benign |
| rs142231537 | 15:44,198,072 | C/T | — | uncertain significance |
| rs1595503222 | 15:44,198,094 | G/C | — | uncertain significance |
| rs2089255913 | 15:44,202,157 | A/G | — | uncertain significance |
| rs2508629949 | 15:44,211,701 | C/G | — | uncertain significance |
| rs761096757 | 15:44,216,429 | G/A | — | uncertain significance |
| rs2508656532 | 15:44,216,432 | T/C | — | uncertain significance |
| rs16948098 | 15:44,219,607 | G/A | intron variant | — |
| rs2929282 | 15:44,245,931 | A/T | intron variant | — |
| rs34029816 | 15:44,253,212 | T/C | intron variant | — |
| rs146906133 | 15:44,262,951 | T/C | intron variant | — |
| rs2929281 | 15:44,266,081 | G/A | — | — |
| rs11638352 | 15:44,293,137 | C/T | — | — |
| rs138893177 | 15:44,297,617 | C/T | intron variant | — |
| rs149779816 | 15:44,305,440 | A/T | intron variant | — |
| rs148596463 | 15:44,305,780 | G/A | — | — |
| rs1863600 | 15:44,322,405 | C/G | — | — |
| rs562493338 | 15:44,340,880 | T/C | — | — |
| rs144637338 | 15:44,375,924 | T/A | — | — |
| rs1365456 | 15:44,378,843 | C/A | — | — |
| rs2733201 | 15:44,408,401 | T/C | intron variant | — |
| rs532634778 | 15:44,416,438 | G/A | — | — |
| rs2509756040 | 15:44,487,167 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.