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

31 papers

NM_002471.4

p.R721W

c.2161C>T

Surrounding Variants

1 paper

NM_002471.4

p.G718_F720del3

c.2152_2159del9

2 papers

NM_002471.4

p.R721Q

c.2162G>A

1 paper

NM_002471.4

p.R723Splc

c.2168+1G>A

1 paper

NM_002471.4

p.G718R

c.2152G>C

1 paper

NM_002471.4

p.G718R

c.2152G>A

1 paper

NM_002471.4

p.Y717Y

c.2151C>T

1 paper

NM_002471.4

p.R714C

c.2140C>T

1 paper

NM_002471.4

p.R723Splc

c.2168+17C>A

1 paper

NM_002471.4

p.P712A

c.2134C>G

1 paper

NM_002471.4

p.R723Splc

c.2168+26C>G

1 paper

NM_002471.4

p.R705H

c.2114G>A

5 papers

NM_002471.4

p.I704N

c.2111T>A