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

3 papers

NM_000260.4

p.G158R

c.472G>A

Surrounding Variants

4 papers

NM_000260.4

p.G158R

c.472G>C

1 paper

NM_000260.4

p.G158W

c.472G>T

3 papers

NM_000260.4

p.G158E

c.473G>A

3 papers

NM_000260.4

p.S157Splc

c.471-1G>A

1 paper

NM_000260.4

p.G158G

c.474G>C

1 paper

NM_000260.4

p.S157Splc

c.471-1G>T

1 paper

NM_000260.4

p.S157Splc

c.471-2A>C

1 paper

NM_000260.4

p.E159K

c.475G>A

1 paper

NM_000260.4

p.E159G

c.476A>G

1 paper

NM_000260.4

p.E159V

c.476A>T

7 papers

NM_000260.4

p.S160C

c.479C>G

1 paper

NM_000260.4

p.S160F

c.479C>T