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

17 papers

NM_002471.4

p.A1443D

c.4328C>A

Surrounding Variants

1 paper

NM_002471.4

p.A1442E

c.4325C>A

5 papers

NM_002471.4

p.A1440P

c.4318G>C

1 paper

NM_002471.4

p.N1438I

c.4313A>T

2 papers

NM_002471.4

p.R1436H

c.4307G>A

1 paper

NM_002471.4

p.N1450T

c.4349A>C

1 paper

NM_002471.4

p.F1451Y

c.4352T>A

2 papers

NM_002471.4

p.V1434I

c.4300G>A

1 paper

NM_002471.4

p.K1453_I1454Splc

c.4359+2T>C

2 papers

NM_002471.4

p.M1431I

c.4293G>T

2 papers

NM_002471.4

p.M1431I

c.4293G>C

2 papers

NM_002471.4

p.M1431I

c.4293G>A

2 papers

NM_002471.4

p.L1430V

c.4288T>G