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

3 papers

NM_002471.4

p.R1143W

c.3427C>T

Surrounding Variants

2 papers

NM_002471.4

p.R1143Q

c.3428G>A

1 paper

NM_002471.4

p.E1144D

c.3432G>T

1 paper

NM_002471.4

p.E1144D

c.3432G>C

1 paper

NM_002471.4

p.L1141L

c.3421C>T

1 paper

NM_002471.4

p.D1140D

c.3420C>T

1 paper

NM_002471.4

p.S1139S

c.3417A>G

2 papers

NM_002471.4

p.R1138H

c.3413G>A

1 paper

NM_002471.4

p.E1147del1

c.3439_3441delCTC

2 papers

NM_002471.4

p.S1149R

c.3445A>C

2 papers

NM_002471.4

p.K1136K

c.3408G>A

2 papers

NM_002471.4

p.S1149R

c.3447C>G

2 papers

NM_002471.4

p.S1149R

c.3447C>A