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

2 papers

NM_002471.4

p.S1224R

c.3670A>C

Surrounding Variants

2 papers

NM_002471.4

p.S1224R

c.3672C>G

2 papers

NM_002471.4

p.S1224R

c.3672C>A

1 paper

NM_002471.4

p.E1220del1

c.3658_3659delCTC

1 paper

NM_002471.4

p.R1214W

c.3640C>T

1 paper

NM_002471.4

p.L1212L

c.3636G>A

1 paper

NM_002471.4

p.M1237L

c.3709A>T

1 paper

NM_002471.4

p.M1237L

c.3709A>C

1 paper

NM_002471.4

p.D1210N

c.3628G>A

2 papers

NM_002471.4

p.I1209I

c.3627C>T

1 paper

NM_002471.4

p.Q1208insFs

c.3624dupG

8 papers

NM_002471.4

p.E1207K

c.3619G>A

1 paper

NM_002471.4

p.G1206G

c.3618C>T