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.L520M

c.1558C>A

Surrounding Variants

3 papers

NM_017534.6

p.F516V

c.1546T>G

1 paper

NM_017534.6

p.E525K

c.1573G>A

1 paper

NM_017534.6

p.D515N

c.1543G>A

1 paper

NM_017534.6

p.K529_P530Splc

c.1587+5G>T

1 paper

NM_017534.6

p.E502K

c.1504G>A

2 papers

NM_017534.6

p.E500*

c.1498G>T

1 paper

NM_017534.6

p.E486K

c.1456G>A

1 paper

NM_017534.6

p.C480R

c.1438T>C

1 paper

NM_017534.6

p.M531R

c.1592T>G

5 papers

NM_017534.6

p.M531T

c.1592T>C

1 paper

NM_017534.6

p.E538K

c.1612G>A

1 paper

NM_017534.6

p.P544fs

c.1630_1631fs