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.L1212fs

c.3634_3635fs

Surrounding Variants

1 paper

NM_000260.4

p.L1212_P1220del9

c.3634_3659del27

1 paper

NM_000260.4

p.Y1211delFs

c.3633delC

1 paper

NM_000260.4

p.R1213W

c.3637C>T

1 paper

NM_000260.4

p.Y1211fs

c.3631_3632fs

1 paper

NM_000260.4

p.Y1211fs

c.3631_3632fs

1 paper

NM_000260.4

p.K1210_Y1211Splc

c.3631-1G>A

3 papers

NM_000260.4

p.Y1211delFs

c.3631delT

1 paper

NM_000260.4

p.K1210_Y1211Splc

c.3631-3C>G

1 paper

NM_000260.4

p.H1217Q

c.3651C>A

1 paper

NM_000260.4

p.H1217Q

c.3651C>G

11 papers

NM_000260.4

p.G1218R

c.3652G>A

10 papers

NM_000260.4

p.G1218R

c.3652G>C