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.G1156G

c.3468C>T

Surrounding Variants

4 papers

NM_002471.4

p.G1157R

c.3469G>C

4 papers

NM_002471.4

p.G1157R

c.3469G>A

1 paper

NM_002471.4

p.A1155A

c.3465C>T

3 papers

NM_002471.4

p.T1159M

c.3476C>T

1 paper

NM_002471.4

p.T1159T

c.3477G>A

2 papers

NM_002471.4

p.S1160S

c.3480C>T

1 paper

NM_002471.4

p.V1161M

c.3481G>A

4 papers

NM_002471.4

p.R1151Q

c.3452G>A

1 paper

NM_002471.4

p.I1163_E1164ins4

c.3487_3491ins12

2 papers

NM_002471.4

p.E1150K

c.3448G>A

1 paper

NM_002471.4

p.I1163I

c.3489C>T

2 papers

NM_002471.4

p.S1149R

c.3447C>G