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

3 papers

NM_002471.4

p.E848G

c.2543A>G

Surrounding Variants

4 papers

NM_002471.4

p.T847M

c.2540C>T

1 paper

NM_002471.4

p.K849del1

c.2545_2546delCTT

1 paper

NM_002471.4

p.A845T

c.2533G>A

1 paper

NM_002471.4

p.T847_T853ins2

c.2539_2559dup21

1 paper

NM_002471.4

p.M854I

c.2562G>T

1 paper

NM_002471.4

p.M854I

c.2562G>C

1 paper

NM_002471.4

p.M854I

c.2562G>A

1 paper

NM_002471.4

p.E857D

c.2571G>T

1 paper

NM_002471.4

p.E857D

c.2571G>C

1 paper

NM_002471.4

p.F858F

c.2574C>T

3 papers

NM_002471.4

p.G859W

c.2575G>T

2 papers

NM_002471.4

p.R860C

c.2578C>T