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.P131R

c.392C>G

Surrounding Variants

1 paper

NM_000260.4

p.P131T

c.391C>A

3 papers

NM_000260.4

p.P131_P132insFs

c.393_394insG

1 paper

NM_000260.4

p.P131P

c.393C>G

31 papers

NM_000260.4

p.H133insFs

c.397dupC

1 paper

NM_000260.4

p.M130_P131insFs

c.390_391insCC

5 papers

NM_000260.4

p.H133delFs

c.397delC

4 papers

NM_000260.4

p.P132L

c.395C>T

1 paper

NM_000260.4

p.M130fs

c.388_389fs

2 papers

NM_000260.4

p.M130L

c.388A>C

2 papers

NM_000260.4

p.M130L

c.388A>T

5 papers

NM_000260.4

p.H133N

c.397C>A

2 papers

NM_000260.4

p.H133fs

c.397_398fs