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.G389R

c.1165G>A

Surrounding Variants

1 paper

NM_000257.4

p.G389R

c.1165G>C

1 paper

NM_000257.4

p.G389V

c.1166G>T

4 papers

NM_000257.4

p.G389E

c.1166G>A

3 papers

NM_000257.4

p.M388T

c.1163T>C

9 papers

NM_000257.4

p.L390V

c.1168C>G

9 papers

NM_000257.4

p.L390P

c.1169T>C

1 paper

NM_000257.4

p.Y386_L387delFs

c.1158_1159delGG

1 paper

NM_000257.4

p.L390delins

c.1168_1170delinsGTT

7 papers

NM_000257.4

p.L387F

c.1159C>T

1 paper

NM_000257.4

p.N391S

c.1172A>G

2 papers

NM_000257.4

p.N391T

c.1172A>C

15 papers

NM_000257.4

p.Y386C

c.1157A>G