Varaico: Literature-Extracted Genetic Variants

MYH7

2,286 papers

RefSeq Summary

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit o...

Pfam Domains

Myosin_Naa 32–76UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 87–766UCSCMyosin head (motor domain)

Myosin_tail_1aa 843–1924UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 7

HGNC Previous Symbols

CMH1; MPD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000257.4

p.F195S

c.584T>C

Surrounding Variants

1 paper

NM_000257.4

p.Y194*

c.582C>G

1 paper

NM_000257.4

p.Y194*

c.582C>A

1 paper

NM_000257.4

p.A196delFs

c.586delC

1 paper

NM_000257.4

p.V197F

c.589G>T

3 papers

NM_000257.4

p.V197I

c.589G>A

5 papers

NM_000257.4

p.Q193R

c.578A>G

1 paper

NM_000257.4

p.I192_Q193Fs

c.574_577delinsTAGTGCTGTFs

1 paper

NM_000257.4

p.I192fs

c.574_575fs

1 paper

NM_000257.4

p.I192delFs

c.575delA

3 papers

NM_000257.4

p.A199T

c.595G>A

9 papers

NM_000257.4

p.A199V

c.596C>T

3 papers

NM_000257.4

p.V191I

c.571G>A