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

1 paper

NM_002471.4

p.M6I

c.18G>T

Surrounding Variants

1 paper

NM_002471.4

p.M6R

c.17T>G

1 paper

NM_002471.4

p.A7T

c.19G>A

1 paper

NM_002471.4

p.D3A

c.8A>C

1 paper

NM_002471.4

p.D3insFs

c.8_9ins8

1 paper

NM_002471.4

p.A11T

c.31G>A

1 paper

NM_002471.4

p.T2insFs

c.4dupA

2 papers

NM_002471.4

p.M1insFs

c.2dupT

1 paper

NM_002471.4

p.M1I

c.3G>A

1 paper

NM_002471.4

p.A12V

c.35C>T

1 paper

NM_002471.4

p.A11_A12delFs

c.33_34delCT

1 paper

NM_002471.4

p.M1V

c.1A>G

1 paper

NM_002471.4

p.A13S

c.37G>T