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

32 papers

NM_000257.4

p.N1327K

c.3981C>A

Surrounding Variants

29 papers

NM_000257.4

p.N1327K

c.3981C>G

9 papers

NM_000257.4

p.A1328T

c.3982G>A

1 paper

NM_000257.4

p.N1327T

c.3980A>C

1 paper

NM_000257.4

p.L1329fs

c.3985_3986fs

2 papers

NM_000257.4

p.K1326R

c.3977A>G

1 paper

NM_000257.4

p.L1329insFs

c.3985dupC

1 paper

NM_000257.4

p.L1329delFs

c.3985delG

1 paper

NM_000257.4

p.L1329fs

c.3985_3986fs

3 papers

NM_000257.4

p.A1325V

c.3974C>T

1 paper

NM_000257.4

p.A1325T

c.3973G>A

1 paper

NM_000257.4

p.H1331D

c.3991C>G

1 paper

NM_000257.4

p.K1324_A1325Splc

c.3973-2A>T