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.K1085E

c.3253A>G

Surrounding Variants

1 paper

NM_002471.4

p.E1097K

c.3289G>A

1 paper

NM_002471.4

p.E1099D

c.3297G>T

1 paper

NM_002471.4

p.E1099D

c.3297G>C

1 paper

NM_002471.4

p.Q1100L

c.3299A>T

14 papers

NM_002471.4

p.V1101A

c.3302T>C

1 paper

NM_002471.4

p.E1112K

c.3334G>A

1 paper

NM_002471.4

p.K1084Splc

c.3251+2T>C

1 paper

NM_002471.4

p.Q1077del1

c.3229_3230delCTG

1 paper

NM_002471.4

p.Q1077L

c.3230A>T

1 paper

NM_002471.4

p.D1074N

c.3220G>A

1 paper

NM_002471.4

p.E1072K

c.3214G>A

2 papers

NM_002471.4

p.I1068T

c.3203T>C