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

1 paper

NM_000260.4

p.A26fs

c.76_77fs

Surrounding Variants

10 papers

NM_000260.4

p.A26E

c.77C>A

1 paper

NM_000260.4

p.G25E

c.74G>A

25 papers

NM_000260.4

p.G25R

c.73G>A

2 papers

NM_000260.4

p.V27M

c.79G>A

24 papers

NM_000260.4

p.G25R

c.73G>C

1 paper

NM_000260.4

p.G25W

c.73G>T

3 papers

NM_000260.4

p.G25delFs

c.75delG

2 papers

NM_000260.4

p.G25_V28delFs

c.75_82del8

1 paper

NM_000260.4

p.V27insFs

c.81dupG

7 papers

NM_000260.4

p.P23H

c.68C>A

1 paper

NM_000260.4

p.D21E

c.63C>A

1 paper

NM_000260.4

p.D21E

c.63C>G