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

2 papers

NM_000257.4

p.M690V

c.2068A>G

Surrounding Variants

1 paper

NM_000257.4

p.M690R

c.2069T>G

8 papers

NM_000257.4

p.M690T

c.2069T>C

1 paper

NM_000257.4

p.M690K

c.2069T>A

1 paper

NM_000257.4

p.V689A

c.2066T>C

1 paper

NM_000257.4

p.V689L

c.2065G>C

1 paper

NM_000257.4

p.L688delFs

c.2063delA

1 paper

NM_000257.4

p.L688fs

c.2062_2063fs

2 papers

NM_000257.4

p.P687H

c.2060C>A

4 papers

NM_000257.4

p.L693R

c.2078T>G

1 paper

NM_000257.4

p.N686K

c.2058C>G

1 paper

NM_000257.4

p.N686K

c.2058C>A

29 papers

NM_000257.4

p.R694C

c.2080C>T