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.Y1989*

c.5967C>G

Surrounding Variants

1 paper

NM_000260.4

p.Y1989*

c.5967C>A

2 papers

NM_000260.4

p.Q1990*

c.5968C>T

1 paper

NM_000260.4

p.F1992I

c.5974T>A

1 paper

NM_000260.4

p.L1987fs

c.5959_5960fs

1 paper

NM_000260.4

p.S1986insFs

c.5958dupA

1 paper

NM_000260.4

p.S1986delFs

c.5957_5958delCA

2 papers

NM_000260.4

p.V1984L

c.5950G>C

2 papers

NM_000260.4

p.V1984L

c.5950G>T

1 paper

NM_000260.4

p.G1982E

c.5945G>A

1 paper

NM_000260.4

p.G1982Splc

c.5945-1G>A

1 paper

NM_000260.4

p.W1998*

c.5993G>A

1 paper

NM_000260.4

p.G1982Splc

c.5945-4G>T