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

4 papers

NM_000260.4

p.L16*

c.47T>A

Surrounding Variants

27 papers

NM_000260.4

p.L16S

c.47T>C

1 paper

NM_000260.4

p.L16W

c.47T>G

1 paper

NM_000260.4

p.L16L

c.48G>A

1 paper

NM_000260.4

p.L16V

c.46T>G

1 paper

NM_000260.4

p.R15G

c.43A>G

1 paper

NM_000260.4

p.G17_D21delins

c.51_63delinsA

15 papers

NM_000260.4

p.Q18*

c.52C>T

1 paper

NM_000260.4

p.Q18delFs

c.54delG

1 paper

NM_000260.4

p.L14P

c.41T>C

1 paper

NM_000260.4

p.R15insFs

c.43_44insGA

3 papers

NM_000260.4

p.L14_Q18delFs

c.42_52del11

2 papers

NM_000260.4

p.Q18H

c.54G>C