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.L430R

c.1289T>G

Surrounding Variants

1 paper

NM_017534.6

p.V434I

c.1300G>A

1 paper

NM_017534.6

p.A426T

c.1276G>A

1 paper

NM_017534.6

p.E436K

c.1306G>A

1 paper

NM_017534.6

p.S424F

c.1271C>T

4 papers

NM_017534.6

p.V423M

c.1267G>A

1 paper

NM_017534.6

p.F439C

c.1316T>G

2 papers

NM_017534.6

p.A444V

c.1331C>T

6 papers

NM_017534.6

p.R445C

c.1333C>T

1 paper

NM_017534.6

p.R445L

c.1334G>T

2 papers

NM_017534.6

p.R445H

c.1334G>A

2 papers

NM_017534.6

p.G461R

c.1381G>C

2 papers

NM_017534.6

p.G461R

c.1381G>A