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

3 papers

NM_000257.4

p.R694L

c.2081G>T

Surrounding Variants

21 papers

NM_000257.4

p.R694H

c.2081G>A

29 papers

NM_000257.4

p.R694C

c.2080C>T

2 papers

NM_000257.4

p.C695R

c.2083T>C

4 papers

NM_000257.4

p.L693R

c.2078T>G

1 paper

NM_000257.4

p.N696Y

c.2086A>T

12 papers

NM_000257.4

p.N696S

c.2087A>G

1 paper

NM_000257.4

p.V698L

c.2092G>T

1 paper

NM_000257.4

p.V698L

c.2092G>C

3 papers

NM_000257.4

p.V698M

c.2092G>A

1 paper

NM_000257.4

p.M690R

c.2069T>G

12 papers

NM_000257.4

p.V698A

c.2093T>C

8 papers

NM_000257.4

p.M690T

c.2069T>C