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.L1667P

c.5000T>C

Surrounding Variants

2 papers

NM_000257.4

p.K1668E

c.5002A>G

5 papers

NM_000257.4

p.D1666N

c.4996G>A

3 papers

NM_000257.4

p.E1669*

c.5005G>T

1 paper

NM_000257.4

p.D1665_D1666insTCG

c.4993_4997ins9

1 paper

NM_000257.4

p.D1665N

c.4993G>A

3 papers

NM_000257.4

p.N1664K

c.4992C>G

4 papers

NM_000257.4

p.N1664K

c.4992C>A

3 papers

NM_000257.4

p.E1669del1

c.5005_5006delCTC

1 paper

NM_000257.4

p.I1671V

c.5011A>G

9 papers

NM_000257.4

p.A1663P

c.4987G>C

1 paper

NM_000257.4

p.I1671M

c.5013C>G

2 papers

NM_000257.4

p.A1672T

c.5014G>A