Varaico: Literature-Extracted Genetic Variants

MYH6

671 papers

RefSeq Summary

Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The...

Pfam Domains

Myosin_Naa 32–76UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 87–768UCSCMyosin head (motor domain)

Myosin_tail_1aa 845–1926UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 6

HGNC Previous Name

myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_002471.4

p.G56R

c.166G>C

Surrounding Variants

14 papers

NM_002471.4

p.G56R

c.166G>A

1 paper

NM_002471.4

p.E55V

c.164A>T

1 paper

NM_002471.4

p.E55*

c.163G>T

1 paper

NM_002471.4

p.G57R

c.169G>C

3 papers

NM_002471.4

p.R54Q

c.161G>A

2 papers

NM_002471.4

p.R54W

c.160C>T

1 paper

NM_002471.4

p.K58E

c.172A>G

1 paper

NM_002471.4

p.S53P

c.157T>C

1 paper

NM_002471.4

p.L52insFs

c.154_155ins4

1 paper

NM_002471.4

p.I60T

c.179T>C

1 paper

NM_002471.4

p.E62Q

c.184G>C

1 paper

NM_002471.4

p.T63T

c.189C>T