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.S1196Y

c.3587C>A

Surrounding Variants

1 paper

NM_000260.4

p.S1196C

c.3587C>G

1 paper

NM_000260.4

p.S1196F

c.3587C>T

4 papers

NM_000260.4

p.L1197_C1198delFs

c.3591_3592delCT

1 paper

NM_000260.4

p.S1196del1

c.3586_3587delTCT

1 paper

NM_000260.4

p.L1197P

c.3590T>C

1 paper

NM_000260.4

p.C1198S

c.3592T>A

3 papers

NM_000260.4

p.C1198fs

c.3592_3593fs

1 paper

NM_000260.4

p.C1198Y

c.3593G>A

1 paper

NM_000260.4

p.C1198S

c.3593G>C

6 papers

NM_000260.4

p.C1198*

c.3594C>A

5 papers

NM_000260.4

p.V1199insFs

c.3596_3597insT

2 papers

NM_000260.4

p.V1199_G1200insFs

c.3597_3598insT