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.I250N

c.749T>A

Surrounding Variants

1 paper

NM_000257.4

p.I250T

c.749T>C

3 papers

NM_000257.4

p.I250F

c.748A>T

2 papers

NM_000257.4

p.I250V

c.748A>G

25 papers

NM_000257.4

p.H251N

c.751C>A

2 papers

NM_000257.4

p.R249L

c.746G>T

80 papers

NM_000257.4

p.R249Q

c.746G>A

1 paper

NM_000257.4

p.R249delins

c.745_746delinsGA

1 paper

NM_000257.4

p.H251H

c.753T>C

4 papers

NM_000257.4

p.R249*

c.745C>T

8 papers

NM_000257.4

p.R249G

c.745C>G

6 papers

NM_000257.4

p.F252L

c.754T>C

5 papers

NM_000257.4

p.F252C

c.755T>G