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.E777fs

c.2329_2330fs

Surrounding Variants

1 paper

NM_002471.4

p.E776_E777insFs

c.2326_2329dup4

2 papers

NM_002471.4

p.D780N

c.2338G>A

1 paper

NM_002471.4

p.E781*

c.2341G>T

1 paper

NM_002471.4

p.G773R

c.2317G>C

1 paper

NM_002471.4

p.R782S

c.2346G>T

1 paper

NM_002471.4

p.R782S

c.2346G>C

3 papers

NM_002471.4

p.R785C

c.2353C>T

1 paper

NM_002471.4

p.R785H

c.2354G>A

4 papers

NM_002471.4

p.A769V

c.2306C>T

4 papers

NM_002471.4

p.T788M

c.2363C>T

1 paper

NM_002471.4

p.R789C

c.2365C>T

1 paper

NM_002471.4

p.R789H

c.2366G>A