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.H9Y

c.25C>T

Surrounding Variants

1 paper

NM_000260.4

p.H9insFs

c.26_27ins5

1 paper

NM_000260.4

p.V10M

c.28G>A

1 paper

NM_000260.4

p.V10insFs

c.29dupT

2 papers

NM_000260.4

p.D8fs

c.22_23fs

3 papers

NM_000260.4

p.V10A

c.29T>C

1 paper

NM_000260.4

p.V10G

c.29T>G

3 papers

NM_000260.4

p.V10delFs

c.30delG

2 papers

NM_000260.4

p.G7E

c.20G>A

1 paper

NM_000260.4

p.G7V

c.20G>T

2 papers

NM_000260.4

p.G7R

c.19G>A

2 papers

NM_000260.4

p.G7R

c.19G>C

1 paper

NM_000260.4

p.Q6_G7Splc

c.19-1G>A