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.M1176L

c.3526A>T

Surrounding Variants

1 paper

NM_002471.4

p.M1176L

c.3526A>C

4 papers

NM_002471.4

p.R1177W

c.3529C>T

1 paper

NM_002471.4

p.R1177L

c.3530G>T

1 paper

NM_002471.4

p.R1178W

c.3532C>T

1 paper

NM_002471.4

p.Q1174*

c.3520C>T

1 paper

NM_002471.4

p.R1178Q

c.3533G>A

1 paper

NM_002471.4

p.E1172K

c.3514G>A

1 paper

NM_002471.4

p.L1180L

c.3540G>A

1 paper

NM_002471.4

p.E1181Q

c.3541G>C

1 paper

NM_002471.4

p.E1181K

c.3541G>A

1 paper

NM_002471.4

p.E1170K

c.3508G>A

1 paper

NM_002471.4

p.T1184delFs

c.3550delT