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.K912N

c.2736G>C

Surrounding Variants

1 paper

NM_000257.4

p.K912N

c.2736G>T

1 paper

NM_000257.4

p.K912R

c.2735A>G

1 paper

NM_000257.4

p.I913S

c.2738T>G

4 papers

NM_000257.4

p.I913T

c.2738T>C

2 papers

NM_000257.4

p.K912Q

c.2734A>C

1 paper

NM_000257.4

p.I913M

c.2739T>G

2 papers

NM_000257.4

p.N911K

c.2733C>G

2 papers

NM_000257.4

p.N911K

c.2733C>A

1 paper

NM_000257.4

p.I913delFs

c.2738delA

4 papers

NM_000257.4

p.Q914H

c.2742G>T

3 papers

NM_000257.4

p.Q914H

c.2742G>C

1 paper

NM_000257.4

p.K910I

c.2729A>T