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

46 papers

NM_000260.4

p.E1170K

c.3508G>A

Surrounding Variants

2 papers

NM_000260.4

p.E1170G

c.3509A>G

1 paper

NM_000260.4

p.E1170_K1177delFs

c.3510_3531del22

1 paper

NM_000260.4

p.E1170_K1177del8

c.3508_3530del24

11 papers

NM_000260.4

p.Y1172_L1179delFs

c.3514_3535del22

6 papers

NM_000260.4

p.Y1172_L1179del8

c.3514_3536del24

5 papers

NM_000260.4

p.R1168Splc

c.3504-1G>C

1 paper

NM_000260.4

p.Y1172_L1179del0

c.3515_3535del21

1 paper

NM_000260.4

p.Q1174R

c.3521A>G

1 paper

NM_000260.4

p.I1175insFs

c.3524_3525insA

1 paper

NM_000260.4

p.S1176G

c.3526A>G

1 paper

NM_000260.4

p.S1176C

c.3526A>T

1 paper

NM_000260.4

p.S1176fs

c.3526_3527fs