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

26 papers

NM_000260.4

p.G163R

c.487G>C

Surrounding Variants

27 papers

NM_000260.4

p.G163R

c.487G>A

3 papers

NM_000260.4

p.G163E

c.488G>A

1 paper

NM_000260.4

p.K164Q

c.490A>C

2 papers

NM_000260.4

p.K164*

c.490A>T

7 papers

NM_000260.4

p.K164R

c.491A>G

1 paper

NM_000260.4

p.G161E

c.482G>A

3 papers

NM_000260.4

p.K164N

c.492G>C

3 papers

NM_000260.4

p.K164N

c.492G>T

3 papers

NM_000260.4

p.T165A

c.493A>G

26 papers

NM_000260.4

p.T165M

c.494C>T

10 papers

NM_000260.4

p.E166delFs

c.496delG

7 papers

NM_000260.4

p.S160C

c.479C>G