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

2 papers

NM_000260.4

p.N44_E45Splc

c.132+5G>A

Surrounding Variants

1 paper

NM_000260.4

p.N44_E45Splc

c.132+2T>G

1 paper

NM_000260.4

p.N44_E45Splc

c.132+1G>A

1 paper

NM_000260.4

p.N44_E45Splc

c.132+13C>A

1 paper

NM_000260.4

p.D43H

c.127G>C

1 paper

NM_000260.4

p.D43_N44insGA

c.127_131ins6

1 paper

NM_000260.4

p.E42D

c.126A>C

1 paper

NM_000260.4

p.E42D

c.126A>T

1 paper

NM_000260.4

p.E42insFs

c.125_126ins4

1 paper

NM_000260.4

p.E42insFs

c.125_126insT

2 papers

NM_000260.4

p.E42V

c.125A>T

1 paper

NM_000260.4

p.D41delFs

c.122delA

1 paper

NM_000260.4

p.D41delFs

c.121delG