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.K570*

c.1708A>T

Surrounding Variants

1 paper

NM_017534.6

p.V571M

c.1711G>A

1 paper

NM_017534.6

p.K573delFs

c.1719delT

1 paper

NM_017534.6

p.A576A

c.1728C>T

1 paper

NM_017534.6

p.Y585C

c.1754A>G

1 paper

NM_017534.6

p.K552N

c.1656G>T

1 paper

NM_017534.6

p.K552N

c.1656G>C

1 paper

NM_017534.6

p.D548N

c.1642G>A

1 paper

NM_017534.6

p.P544delFs

c.1631delG

1 paper

NM_017534.6

p.P544fs

c.1630_1631fs

1 paper

NM_017534.6

p.W596fs

c.1786_1787fs

1 paper

NM_017534.6

p.L597M

c.1789C>A

1 paper

NM_017534.6

p.E538K

c.1612G>A