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

1–12 of 2257 variants

50 papers

NM_000260.4

p.R1240Q

c.3719G>A

46 papers

NM_000260.4

p.E1170K

c.3508G>A

34 papers

NM_000260.4

p.G214R

c.640G>A

34 papers

NM_000260.4

p.A2009delFs

c.6025delG

33 papers

NM_000260.4

p.G214R

c.640G>C

31 papers

NM_000260.4

p.H133insFs

c.397dupC

30 papers

NM_000260.4

p.R212H

c.635G>A

27 papers

NM_000260.4

p.L16S

c.47T>C

27 papers

NM_000260.4

p.G163R

c.487G>A

27 papers

NM_000260.4

p.R1861*

c.5581C>T

26 papers

NM_000260.4

p.G163R

c.487G>C

26 papers

NM_000260.4

p.T165M

c.494C>T