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

3 papers

NM_000260.4

p.I113_P116insFs

c.338_348dup11

Surrounding Variants

1 paper

NM_000260.4

p.I113delFs

c.337delA

1 paper

NM_000260.4

p.L111F

c.331C>T

1 paper

NM_000260.4

p.L111delFs

c.332delT

1 paper

NM_000260.4

p.I113T

c.338T>C

1 paper

NM_000260.4

p.Q109R

c.326A>G

3 papers

NM_000260.4

p.Y108*

c.324C>A

3 papers

NM_000260.4

p.Y108*

c.324C>G

4 papers

NM_000260.4

p.Y108Y

c.324C>T

1 paper

NM_000260.4

p.Y108S

c.323A>C

2 papers

NM_000260.4

p.Y108fs

c.322_323fs

3 papers

NM_000260.4

p.P107_Y108insFs

c.321_322insA

1 paper

NM_000260.4

p.E117Q

c.349G>C