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.E233K

c.697G>A

Surrounding Variants

1 paper

NM_000260.4

p.E233Q

c.697G>C

2 papers

NM_000260.4

p.E233del1

c.697_698delGAG

1 paper

NM_000260.4

p.I232_Q234ins1

c.696_701dup6

1 paper

NM_000260.4

p.I232fs

c.694_695fs

15 papers

NM_000260.4

p.Q234*

c.700C>T

1 paper

NM_000260.4

p.Y235D

c.703T>G

1 paper

NM_000260.4

p.Y235C

c.704A>G

1 paper

NM_000260.4

p.Y235*

c.705C>A

1 paper

NM_000260.4

p.Y235*

c.705C>G

24 papers

NM_000260.4

p.A230V

c.689C>T

2 papers

NM_000260.4

p.A230T

c.688G>A

3 papers

NM_000260.4

p.G229G

c.687C>T