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.S211N

c.632G>A

Surrounding Variants

1 paper

NM_000260.4

p.S211delFs

c.633delC

6 papers

NM_000260.4

p.S211G

c.631A>G

19 papers

NM_000260.4

p.R212C

c.634C>T

3 papers

NM_000260.4

p.S210*

c.629C>A

3 papers

NM_000260.4

p.S210*

c.629C>G

30 papers

NM_000260.4

p.R212H

c.635G>A

1 paper

NM_000260.4

p.N209K

c.627C>A

1 paper

NM_000260.4

p.N209K

c.627C>G

1 paper

NM_000260.4

p.F213Y

c.638T>A

1 paper

NM_000260.4

p.F213S

c.638T>C

1 paper

NM_000260.4

p.N209insFs

c.625_626insG

1 paper

NM_000260.4

p.F213F

c.639C>T