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

6 papers

NM_000257.4

p.G214D

c.641G>A

Surrounding Variants

1 paper

NM_000257.4

p.K213_G214Splc

c.640-1G>A

4 papers

NM_000257.4

p.T215I

c.644C>T

1 paper

NM_000257.4

p.K213_G214Splc

c.640-2A>T

1 paper

NM_000257.4

p.L216V

c.646C>G

1 paper

NM_000257.4

p.L216M

c.646C>A

1 paper

NM_000257.4

p.L216P

c.647T>C

1 paper

NM_000257.4

p.D218delFs

c.652delC

5 papers

NM_000257.4

p.Q219E

c.655C>G

1 paper

NM_000257.4

p.I221T

c.662T>C

1 paper

NM_000257.4

p.I221I

c.663C>A

2 papers

NM_000257.4

p.Q222K

c.664C>A

1 paper

NM_000257.4

p.Q222R

c.665A>G