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.P107delFs

c.321delC

Surrounding Variants

1 paper

NM_000260.4

p.N106S

c.317A>G

3 papers

NM_000260.4

p.N106K

c.318C>A

2 papers

NM_000260.4

p.N106K

c.318C>G

1 paper

NM_000260.4

p.N106_L111del6

c.316_332del18

3 papers

NM_000260.4

p.P107_Y108insFs

c.321_322insA

1 paper

NM_000260.4

p.V105L

c.313G>T

1 paper

NM_000260.4

p.V105_L110delFs

c.314_329del16

1 paper

NM_000260.4

p.V105insFs

c.313dupG

2 papers

NM_000260.4

p.Y108fs

c.322_323fs

1 paper

NM_000260.4

p.V105delFs

c.313delG

2 papers

NM_000260.4

p.V105_Q109delFs

c.313_326del14

1 paper

NM_000260.4

p.Y108S

c.323A>C