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

13 papers

NM_002471.4

p.R795Q

c.2384G>A

Surrounding Variants

5 papers

NM_002471.4

p.R795W

c.2383C>T

1 paper

NM_002471.4

p.G796S

c.2386G>A

1 paper

NM_002471.4

p.Q791_A792insFs

c.2373_2374insG

1 paper

NM_002471.4

p.M799L

c.2395A>T

1 paper

NM_002471.4

p.M799I

c.2397G>T

1 paper

NM_002471.4

p.M799I

c.2397G>C

1 paper

NM_002471.4

p.M799I

c.2397G>A

2 papers

NM_002471.4

p.R800C

c.2398C>T

1 paper

NM_002471.4

p.R800H

c.2399G>A

2 papers

NM_002471.4

p.I801V

c.2401A>G

1 paper

NM_002471.4

p.R789_R800delFs

c.2366_2400del35

1 paper

NM_002471.4

p.R789H

c.2366G>A