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.R696H

c.2087G>A

Surrounding Variants

3 papers

NM_002471.4

p.R696C

c.2086C>T

1 paper

NM_002471.4

p.H693Q

c.2079C>G

1 paper

NM_002471.4

p.H693Q

c.2079C>A

7 papers

NM_002471.4

p.V700M

c.2098G>A

3 papers

NM_002471.4

p.V691I

c.2071G>A

1 paper

NM_002471.4

p.G703V

c.2108G>T

2 papers

NM_002471.4

p.P689T

c.2065C>A

2 papers

NM_002471.4

p.N688K

c.2064C>G

2 papers

NM_002471.4

p.N688K

c.2064C>A

5 papers

NM_002471.4

p.I704N

c.2111T>A

1 paper

NM_002471.4

p.R705H

c.2114G>A

1 paper

NM_002471.4

p.P712A

c.2134C>G