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.G707S

c.2119G>A

Surrounding Variants

34 papers

NM_017534.6

p.E706K

c.2116G>A

1 paper

NM_017534.6

p.R709C

c.2125C>T

1 paper

NM_017534.6

p.L705L

c.2113C>T

2 papers

NM_017534.6

p.R709H

c.2126G>A

1 paper

NM_017534.6

p.N702_V704delFs

c.2104_2111del8

1 paper

NM_017534.6

p.G703D

c.2108G>A

1 paper

NM_017534.6

p.G703ins1

c.2107_2108insAGG

1 paper

NM_017534.6

p.N702fs

c.2104_2105fs

1 paper

NM_017534.6

p.N702Y

c.2104A>T

1 paper

NM_017534.6

p.L699P

c.2096T>C

1 paper

NM_017534.6

p.H697R

c.2090A>G

1 paper

NM_017534.6

p.L696fs

c.2086_2087fs