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.E345K

c.1033G>A

Surrounding Variants

1 paper

NM_000257.4

p.E344E

c.1032G>A

3 papers

NM_000257.4

p.E344K

c.1030G>A

1 paper

NM_000257.4

p.S343delFs

c.1029delT

1 paper

NM_000257.4

p.T342I

c.1025C>T

1 paper

NM_000257.4

p.K346_N347del1

c.1038_1040delTTT

3 papers

NM_000257.4

p.F341L

c.1023C>G

3 papers

NM_000257.4

p.F341L

c.1023C>A

1 paper

NM_000257.4

p.S348Y

c.1043C>A

3 papers

NM_000257.4

p.F341L

c.1021T>C

5 papers

NM_000257.4

p.M349V

c.1045A>G

11 papers

NM_000257.4

p.M349T

c.1046T>C

1 paper

NM_000257.4

p.G340D

c.1019G>A