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

1–12 of 1081 variants

36 papers

NM_002471.4

p.A1004S

c.3010G>T

31 papers

NM_002471.4

p.R721W

c.2161C>T

17 papers

NM_002471.4

p.A1443D

c.4328C>A

16 papers

NM_002471.4

p.Q1065H

c.3195G>C

15 papers

NM_002471.4

p.A1130T

c.3388G>A

15 papers

NM_002471.4

p.T1379M

c.4136C>T

14 papers

NM_002471.4

p.G56R

c.166G>C

14 papers

NM_002471.4

p.G56R

c.166G>A

14 papers

NM_002471.4

p.D208N

c.622G>A

14 papers

NM_002471.4

p.V1101A

c.3302T>C

13 papers

NM_002471.4

p.R795Q

c.2384G>A

13 papers

NM_002471.4

p.I820N

c.2459T>A