Varaico: Literature-Extracted Genetic Variants

MYO7A

1,075 papers

RefSeq Summary

This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other ...

Pfam Domains

Myosin_VII_Naa 5–59UCSCMyosin VII N-terminal beta barrel domain

Myosin_headaa 67–729UCSCMyosin head (motor domain)

IQaa 768–788UCSCIQ calmodulin-binding motif

IQaa 814–834UCSCIQ calmodulin-binding motif

MyTH4aa 1154–1251UCSCMyTH4 domain

RA_2aa 1256–1350UCSCRA like domain

Gene Aliases

HGNC Name

myosin VIIA

HGNC Previous Symbols

USH1B; DFNB2; DFNA11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_000260.4

p.G1218R

c.3652G>C

Surrounding Variants

11 papers

NM_000260.4

p.G1218R

c.3652G>A

1 paper

NM_000260.4

p.H1217Q

c.3651C>A

1 paper

NM_000260.4

p.H1217Q

c.3651C>G

1 paper

NM_000260.4

p.G1219_P1220del2

c.3655_3659del6

2 papers

NM_000260.4

p.G1219_Y1226del8

c.3655_3677del24

1 paper

NM_000260.4

p.G1219fs

c.3655_3656fs

1 paper

NM_000260.4

p.G1219insFs

c.3657dupC

7 papers

NM_000260.4

p.P1220L

c.3659C>T

2 papers

NM_000260.4

p.G1222S

c.3664G>A

1 paper

NM_000260.4

p.G1222D

c.3665G>A

1 paper

NM_000260.4

p.R1213W

c.3637C>T

1 paper

NM_000260.4

p.L1212fs

c.3634_3635fs