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.I820N

c.2459T>A

Surrounding Variants

1 paper

NM_002471.4

p.I820T

c.2459T>C

3 papers

NM_002471.4

p.A822T

c.2464G>A

1 paper

NM_002471.4

p.A812T

c.2434G>A

8 papers

NM_002471.4

p.P830L

c.2489C>T

1 paper

NM_002471.4

p.P830_W831insFs

c.2490_2491insT

1 paper

NM_002471.4

p.R810W

c.2428A>T

1 paper

NM_002471.4

p.Y835N

c.2503T>A

1 paper

NM_002471.4

p.Y835fs

c.2503_2504fs

1 paper

NM_002471.4

p.A845T

c.2533G>A

4 papers

NM_002471.4

p.T847M

c.2540C>T

3 papers

NM_002471.4

p.E848G

c.2543A>G

1 paper

NM_002471.4

p.K849del1

c.2545_2546delCTT