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.M12T

c.35T>C

Surrounding Variants

5 papers

NM_000260.4

p.M12insFs

c.35_36insG

1 paper

NM_000260.4

p.M12Fs

c.35delinsTTCTCAGAGCAGAGGAGGAGGGGTTCTCAGAGCAGAGGAGGAGGAFs

3 papers

NM_000260.4

p.M12delFs

c.35delT

1 paper

NM_000260.4

p.D13insFs

c.38_39insG

1 paper

NM_000260.4

p.W11delins

c.33delinsCAGTGCCTTG

2 papers

NM_000260.4

p.D13E

c.39C>A

2 papers

NM_000260.4

p.D13E

c.39C>G

2 papers

NM_000260.4

p.D13D

c.39C>T

3 papers

NM_000260.4

p.V10A

c.29T>C

1 paper

NM_000260.4

p.L14P

c.41T>C

1 paper

NM_000260.4

p.V10G

c.29T>G

1 paper

NM_000260.4

p.R15insFs

c.43_44insGA