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.H1494Y

c.4480C>T

Surrounding Variants

2 papers

NM_000257.4

p.H1494L

c.4481A>T

1 paper

NM_000257.4

p.L1492delFs

c.4475delA

4 papers

NM_000257.4

p.L1492P

c.4475T>C

8 papers

NM_000257.4

p.E1496A

c.4487A>C

33 papers

NM_000257.4

p.S1491C

c.4472C>G

1 paper

NM_000257.4

p.T1497S

c.4489A>T

1 paper

NM_000257.4

p.T1497S

c.4490C>G

1 paper

NM_000257.4

p.T1497N

c.4490C>A

3 papers

NM_000257.4

p.F1498Y

c.4493T>A

4 papers

NM_000257.4

p.Y1488C

c.4463A>G

27 papers

NM_000257.4

p.R1500W

c.4498C>T

1 paper

NM_000257.4

p.R1500L

c.4499G>T