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.I248V

c.742A>G

Surrounding Variants

4 papers

NM_000257.4

p.I248F

c.742A>T

7 papers

NM_000257.4

p.I248T

c.743T>C

11 papers

NM_000257.4

p.F247L

c.741C>G

12 papers

NM_000257.4

p.F247L

c.741C>A

1 paper

NM_000257.4

p.F247C

c.740T>G

13 papers

NM_000257.4

p.F247L

c.739T>C

4 papers

NM_000257.4

p.R249*

c.745C>T

8 papers

NM_000257.4

p.R249G

c.745C>G

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

5 papers

NM_000257.4

p.K246I

c.737A>T