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.Q35*

c.103C>T

Surrounding Variants

1 paper

NM_000260.4

p.V36L

c.106G>C

1 paper

NM_000260.4

p.S33_G34insFs

c.99_100insT

2 papers

NM_000260.4

p.S33delFs

c.99delT

19 papers

NM_000260.4

p.C31*

c.93C>A

1 paper

NM_000260.4

p.V38G

c.113T>G

1 paper

NM_000260.4

p.D40delFs

c.118delG

1 paper

NM_000260.4

p.L30insFs

c.89_90ins5

1 paper

NM_000260.4

p.D40insFs

c.119dupA

1 paper

NM_000260.4

p.D40ins5

c.119_120ins15

3 papers

NM_000260.4

p.D40V

c.119A>T

1 paper

NM_000260.4

p.D41delFs

c.121delG

1 paper

NM_000260.4

p.D41delFs

c.122delA