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.Y134S

c.401A>C

Surrounding Variants

5 papers

NM_000257.4

p.Y134H

c.400T>C

1 paper

NM_000257.4

p.T135A

c.403A>G

1 paper

NM_000257.4

p.T135_P136insC

c.403_407ins3

1 paper

NM_000257.4

p.T135I

c.404C>T

1 paper

NM_000257.4

p.V133M

c.397G>A

2 papers

NM_000257.4

p.E137K

c.409G>A

1 paper

NM_000257.4

p.E137V

c.410A>T

1 paper

NM_000257.4

p.L131V

c.391C>G

1 paper

NM_000257.4

p.V138M

c.412G>A

1 paper

NM_000257.4

p.W130R

c.388T>C

3 papers

NM_000257.4

p.V139L

c.415G>T

4 papers

NM_000257.4

p.V139L

c.415G>C