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.R206H

c.617G>A

Surrounding Variants

6 papers

NM_000260.4

p.R206C

c.616C>T

2 papers

NM_000260.4

p.N207S

c.620A>G

1 paper

NM_000260.4

p.I205V

c.613A>G

1 paper

NM_000260.4

p.N207N

c.621T>C

1 paper

NM_000260.4

p.T204T

c.612C>G

4 papers

NM_000260.4

p.T204A

c.610A>G

1 paper

NM_000260.4

p.N209insFs

c.625_626insG

1 paper

NM_000260.4

p.N209K

c.627C>A

1 paper

NM_000260.4

p.N209K

c.627C>G

3 papers

NM_000260.4

p.S210*

c.629C>A

3 papers

NM_000260.4

p.S210*

c.629C>G

1 paper

NM_000260.4

p.A202V

c.605C>T