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

33 papers

NM_000260.4

p.G214R

c.640G>C

Surrounding Variants

34 papers

NM_000260.4

p.G214R

c.640G>A

1 paper

NM_000260.4

p.F213F

c.639C>T

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.K215T

c.644A>C

30 papers

NM_000260.4

p.R212H

c.635G>A

1 paper

NM_000260.4

p.Y216_D218del3

c.646_653del9

19 papers

NM_000260.4

p.R212C

c.634C>T

1 paper

NM_000260.4

p.Y216Y

c.648C>T

1 paper

NM_000260.4

p.S211N

c.632G>A

1 paper

NM_000260.4

p.S211delFs

c.633delC

1 paper

NM_000260.4

p.I217insFs

c.649_650insC