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

13 papers

NM_000257.4

p.R403G

c.1207C>G

Surrounding Variants

92 papers

NM_000257.4

p.R403W

c.1207C>T

22 papers

NM_000257.4

p.R403L

c.1208G>T

3 papers

NM_000257.4

p.R403P

c.1208G>C

400 papers

NM_000257.4

p.R403Q

c.1208G>A

1 paper

NM_000257.4

p.R403delins

c.1207_1208delinsAA

1 paper

NM_000257.4

p.P402L

c.1205C>T

3 papers

NM_000257.4

p.V404M

c.1210G>A

1 paper

NM_000257.4

p.P402S

c.1204C>T

1 paper

NM_000257.4

p.H401Q

c.1203C>A

1 paper

NM_000257.4

p.V404insFs

c.1211dupT

2 papers

NM_000257.4

p.H401D

c.1201C>G

1 paper

NM_000257.4

p.K405E

c.1213A>G