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

15 papers

NM_002471.4

p.T1379M

c.4136C>T

Surrounding Variants

1 paper

NM_002471.4

p.T1379T

c.4137G>A

1 paper

NM_002471.4

p.D1380D

c.4140C>T

1 paper

NM_002471.4

p.Q1383*

c.4147C>T

2 papers

NM_002471.4

p.R1384W

c.4150C>T

1 paper

NM_002471.4

p.L1388L

c.4164C>A

1 paper

NM_002471.4

p.E1389K

c.4165G>A

8 papers

NM_002471.4

p.A1366D

c.4097C>A

1 paper

NM_002471.4

p.K1392T

c.4175A>C

1 paper

NM_002471.4

p.K1392Splc

c.4175+5G>A

1 paper

NM_002471.4

p.S1364C

c.4091C>G

3 papers

NM_002471.4

p.R1361H

c.4082G>A

1 paper

NM_002471.4

p.E1352V

c.4055A>T