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.Y1349*

c.4047C>A

Surrounding Variants

1 paper

NM_002471.4

p.Y1349*

c.4047C>G

3 papers

NM_002471.4

p.E1350K

c.4048G>A

1 paper

NM_002471.4

p.Q1348*

c.4042C>T

1 paper

NM_002471.4

p.E1352V

c.4055A>T

2 papers

NM_002471.4

p.R1346Q

c.4037G>A

2 papers

NM_002471.4

p.R1346W

c.4036C>T

1 paper

NM_002471.4

p.L1345P

c.4034T>C

2 papers

NM_002471.4

p.C1342*

c.4026C>A

1 paper

NM_002471.4

p.R1339L

c.4016G>T

1 paper

NM_002471.4

p.R1339W

c.4015C>T

3 papers

NM_002471.4

p.R1361H

c.4082G>A

1 paper

NM_002471.4

p.S1337S

c.4011G>A