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.S1176G

c.3526A>G

Surrounding Variants

1 paper

NM_000260.4

p.S1176C

c.3526A>T

1 paper

NM_000260.4

p.S1176fs

c.3526_3527fs

3 papers

NM_000260.4

p.S1176N

c.3527G>A

1 paper

NM_000260.4

p.S1176I

c.3527G>T

1 paper

NM_000260.4

p.I1175insFs

c.3524_3525insA

1 paper

NM_000260.4

p.Q1174R

c.3521A>G

1 paper

NM_000260.4

p.K1177_Q1178insFs

c.3531_3532ins5

3 papers

NM_000260.4

p.K1177N

c.3531G>T

1 paper

NM_000260.4

p.Q1178fs

c.3532_3533fs

1 paper

NM_000260.4

p.L1179Q

c.3536T>A

1 paper

NM_000260.4

p.Y1172_L1179del0

c.3515_3535del21

6 papers

NM_000260.4

p.Y1172_L1179del8

c.3514_3536del24