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

5 papers

NM_002471.4

p.R1047C

c.3139C>T

Surrounding Variants

1 paper

NM_002471.4

p.R1047H

c.3140G>A

1 paper

NM_002471.4

p.K1045E

c.3133A>G

1 paper

NM_002471.4

p.R1047_L1050del4

c.3139_3149del12

1 paper

NM_002471.4

p.L1040L

c.3118C>T

1 paper

NM_002471.4

p.M1048_K1054del0

c.3142_3162del21

3 papers

NM_002471.4

p.R1055Q

c.3164G>A

1 paper

NM_002471.4

p.G1038R

c.3112G>C

1 paper

NM_002471.4

p.G1038R

c.3112G>A

1 paper

NM_002471.4

p.D1035_L1036Splc

c.3106-2A>T

1 paper

NM_002471.4

p.G1059G

c.3177C>T

1 paper

NM_002471.4

p.D1060N

c.3178G>A

1 paper

NM_002471.4

p.Q1065R

c.3194A>G