Varaico: Literature-Extracted Genetic Variants

MYH2

386 papers

RefSeq Summary

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonid...

Pfam Domains

Myosin_Naa 33–77UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 88–772UCSCMyosin head (motor domain)

Myosin_tail_1aa 849–1930UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 2

HGNC Previous Symbol

IBM3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017534.6

p.T178Splc

c.533+6T>G

Surrounding Variants

4 papers

NM_017534.6

p.T178I

c.533C>T

1 paper

NM_017534.6

p.I177M

c.531C>G

9 papers

NM_017534.6

p.T178I

c.533C>T

1 paper

NM_017534.6

p.G182C

c.544G>T

1 paper

NM_017534.6

p.T189I

c.566C>T

1 paper

NM_017534.6

p.V192F

c.574G>T

1 paper

NM_017534.6

p.I193M

c.579C>G

1 paper

NM_017534.6

p.Q216R

c.647A>G

1 paper

NM_017534.6

p.Q222R

c.665A>G

1 paper

NM_017534.6

p.P228L

c.683C>T

1 paper

NM_017534.6

p.N235D

c.703A>G

5 papers

NM_017534.6

p.A236T

c.706G>A