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.E45D

c.135G>C

Surrounding Variants

1 paper

NM_002471.4

p.E45D

c.135G>T

1 paper

NM_002471.4

p.F46_V47ins6

c.138_139ins18

1 paper

NM_002471.4

p.V39_D41del3

c.115_122del9

1 paper

NM_002471.4

p.D41N

c.121G>A

1 paper

NM_002471.4

p.P40R

c.119C>G

1 paper

NM_002471.4

p.L52insFs

c.154_155ins4

1 paper

NM_002471.4

p.V39M

c.115G>A

1 paper

NM_002471.4

p.S53P

c.157T>C

2 papers

NM_002471.4

p.R54W

c.160C>T

3 papers

NM_002471.4

p.R54Q

c.161G>A

1 paper

NM_002471.4

p.E55*

c.163G>T

1 paper

NM_002471.4

p.E55V

c.164A>T