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

15 papers

NM_002471.4

p.A1130T

c.3388G>A

Surrounding Variants

1 paper

NM_002471.4

p.A1130S

c.3388G>T

3 papers

NM_002471.4

p.R1128H

c.3383G>A

1 paper

NM_002471.4

p.R1131R

c.3393G>A

2 papers

NM_002471.4

p.R1128C

c.3382C>T

1 paper

NM_002471.4

p.E1127K

c.3379G>A

2 papers

NM_002471.4

p.K1133Q

c.3397A>C

1 paper

NM_002471.4

p.A1126A

c.3378C>T

1 paper

NM_002471.4

p.V1134G

c.3401T>G

1 paper

NM_002471.4

p.E1123E

c.3369G>A

2 papers

NM_002471.4

p.K1136K

c.3408G>A

2 papers

NM_002471.4

p.R1138H

c.3413G>A

1 paper

NM_002471.4

p.S1139S

c.3417A>G