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.A1199A

c.3597C>T

Surrounding Variants

2 papers

NM_002471.4

p.D1200H

c.3598G>C

1 paper

NM_002471.4

p.H1198Q

c.3594C>G

1 paper

NM_002471.4

p.H1198Q

c.3594C>A

1 paper

NM_002471.4

p.K1197K

c.3591G>A

4 papers

NM_002471.4

p.V1202M

c.3604G>A

1 paper

NM_002471.4

p.A1203T

c.3607G>A

2 papers

NM_002471.4

p.A1203fs

c.3607_3608fs

2 papers

NM_002471.4

p.A1203insFs

c.3607dupG

1 paper

NM_002471.4

p.A1203A

c.3609C>T

2 papers

NM_002471.4

p.A1203A

c.3609C>G

2 papers

NM_002471.4

p.R1195H

c.3584G>A

2 papers

NM_002471.4

p.R1195C

c.3583C>T