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.Q14H

c.42G>T

Surrounding Variants

1 paper

NM_002471.4

p.A13_Q14del1

c.39_41delTGG

1 paper

NM_002471.4

p.A13V

c.38C>T

1 paper

NM_002471.4

p.A13S

c.37G>T

1 paper

NM_002471.4

p.R17C

c.49C>T

1 paper

NM_002471.4

p.A12V

c.35C>T

1 paper

NM_002471.4

p.A11_A12delFs

c.33_34delCT

4 papers

NM_002471.4

p.R17L

c.50G>T

5 papers

NM_002471.4

p.R17H

c.50G>A

1 paper

NM_002471.4

p.A11T

c.31G>A

4 papers

NM_002471.4

p.S19S

c.57A>G

1 paper

NM_002471.4

p.S19_E20ins11

c.57_58ins33

1 paper

NM_002471.4

p.A7T

c.19G>A