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.E117ins1

c.350_351insCTT

Surrounding Variants

1 paper

NM_000260.4

p.E117Q

c.349G>C

2 papers

NM_000260.4

p.E117fs

c.349_350fs

1 paper

NM_000260.4

p.H118delins

c.353_354delinsAG

1 paper

NM_000260.4

p.R120del1

c.358_360delCGC

2 papers

NM_000260.4

p.R120H

c.359G>A

1 paper

NM_000260.4

p.R120L

c.359G>T

1 paper

NM_000260.4

p.R120R

c.360C>T

1 paper

NM_000260.4

p.Q121*

c.361C>T

1 paper

NM_000260.4

p.I113T

c.338T>C

1 paper

NM_000260.4

p.Y122delFs

c.364delT

1 paper

NM_000260.4

p.I113delFs

c.337delA

1 paper

NM_000260.4

p.Y122Y

c.366T>C