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.R1398W

c.4192C>T

Surrounding Variants

4 papers

NM_002471.4

p.R1398Q

c.4193G>A

1 paper

NM_002471.4

p.A1402A

c.4206C>T

3 papers

NM_002471.4

p.E1403K

c.4207G>A

3 papers

NM_002471.4

p.E1403G

c.4208A>G

1 paper

NM_002471.4

p.E1403A

c.4208A>C

1 paper

NM_002471.4

p.K1392T

c.4175A>C

1 paper

NM_002471.4

p.E1404D

c.4212G>T

1 paper

NM_002471.4

p.E1404D

c.4212G>C

1 paper

NM_002471.4

p.A1405T

c.4213G>A

1 paper

NM_002471.4

p.N1410H

c.4228A>C

5 papers

NM_002471.4

p.A1411T

c.4231G>A

1 paper

NM_002471.4

p.H1421N

c.4261C>A