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.G205V

c.614G>T

Surrounding Variants

1 paper

NM_002471.4

p.G205D

c.614G>A

4 papers

NM_002471.4

p.R204H

c.611G>A

14 papers

NM_002471.4

p.D208N

c.622G>A

1 paper

NM_002471.4

p.G202_K207delFs

c.605_621del17

2 papers

NM_002471.4

p.G202R

c.604G>C

1 paper

NM_002471.4

p.I201T

c.602T>C

1 paper

NM_002471.4

p.N209I

c.626A>T

1 paper

NM_002471.4

p.A210D

c.629C>A

1 paper

NM_002471.4

p.A200P

c.598G>C

1 paper

NM_002471.4

p.N211S

c.632A>G

1 paper

NM_002471.4

p.A199T

c.595G>A

1 paper

NM_002471.4

p.A212V

c.635C>T