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.E1932delFs

c.5794delC

Surrounding Variants

1 paper

NM_017534.6

p.K1929N

c.5787G>T

1 paper

NM_017534.6

p.K1929N

c.5787G>C

8 papers

NM_017534.6

p.R1927Q

c.5780G>A

1 paper

NM_017534.6

p.R1927delFs

c.5779delG

1 paper

NM_017534.6

p.N1924_R1927delFs

c.5770_5779del10

1 paper

NM_017534.6

p.K1925delFs

c.5774delT

2 papers

NM_017534.6

p.E1941delFs

c.5821delC

1 paper

NM_017534.6

p.E1940_E1941insFs

c.5820_5821dupAG

1 paper

NM_017534.6

p.Q1922K

c.5764C>A

2 papers

NM_017534.6

p.R1903C

c.5707C>T

1 paper

NM_017534.6

p.F1902L

c.5706C>G

1 paper

NM_017534.6

p.F1902L

c.5706C>A