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

2 papers

NM_000260.4

p.H133P

c.398A>C

Surrounding Variants

3 papers

NM_000260.4

p.H133insFs

c.398_399insC

5 papers

NM_000260.4

p.H133N

c.397C>A

2 papers

NM_000260.4

p.H133fs

c.397_398fs

6 papers

NM_000260.4

p.H133D

c.397C>G

9 papers

NM_000260.4

p.H133Y

c.397C>T

22 papers

NM_000260.4

p.H133fs

c.397_398fs

1 paper

NM_000260.4

p.I134fs

c.400_401fs

4 papers

NM_000260.4

p.P132L

c.395C>T

8 papers

NM_000260.4

p.I134N

c.401T>A

2 papers

NM_000260.4

p.I134T

c.401T>C

1 paper

NM_000260.4

p.I134delFs

c.402delC

3 papers

NM_000260.4

p.P131_P132insFs

c.393_394insG