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

3 papers

NM_000260.4

p.M2008T

c.6023T>C

Surrounding Variants

34 papers

NM_000260.4

p.A2009delFs

c.6025delG

1 paper

NM_000260.4

p.M2008fs

c.6022_6023fs

2 papers

NM_000260.4

p.A2009T

c.6025G>A

5 papers

NM_000260.4

p.A2009fs

c.6025_6026fs

17 papers

NM_000260.4

p.A2009fs

c.6025_6026fs

4 papers

NM_000260.4

p.A2009D

c.6026C>A

17 papers

NM_000260.4

p.D2010N

c.6028G>A

1 paper

NM_000260.4

p.D2010Y

c.6028G>T

2 papers

NM_000260.4

p.D2010G

c.6029A>G

1 paper

NM_000260.4

p.D2006delFs

c.6018delT

1 paper

NM_000260.4

p.D2006N

c.6016G>A

1 paper

NM_000260.4

p.D2006delFs

c.6017_6018delAT