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.Q245Q

c.735G>A

Surrounding Variants

1 paper

NM_000260.4

p.Q245_A246Splc

c.735+1G>A

1 paper

NM_000260.4

p.Q245_A246Splc

c.735+1G>T

1 paper

NM_000260.4

p.Q245*

c.733C>T

3 papers

NM_000260.4

p.R244H

c.731G>A

26 papers

NM_000260.4

p.R244P

c.731G>C

1 paper

NM_000260.4

p.C243Y

c.728G>A

1 paper

NM_000260.4

p.C243fs

c.727_728fs

1 paper

NM_000260.4

p.V242A

c.725T>C

1 paper

NM_000260.4

p.V242delFs

c.726delC

1 paper

NM_000260.4

p.V242F

c.724G>T

11 papers

NM_000260.4

p.R241H

c.722G>A

8 papers

NM_000260.4

p.R241P

c.722G>C