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.I33_R34del2

c.97_101del6

Surrounding Variants

1 paper

NM_002471.4

p.R34G

c.100C>G

2 papers

NM_002471.4

p.D32H

c.94G>C

1 paper

NM_002471.4

p.V39M

c.115G>A

1 paper

NM_002471.4

p.P40R

c.119C>G

1 paper

NM_002471.4

p.P30R

c.89C>G

1 paper

NM_002471.4

p.D41N

c.121G>A

1 paper

NM_002471.4

p.Q27_R29ins1

c.80_85dup6

1 paper

NM_002471.4

p.R29Q

c.86G>A

1 paper

NM_002471.4

p.T28I

c.83C>T

1 paper

NM_002471.4

p.V39_D41del3

c.115_122del9

1 paper

NM_002471.4

p.Q27H

c.81G>T

1 paper

NM_002471.4

p.Q27H

c.81G>C