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

2 papers

NM_017534.6

p.F801fs

c.2401_2402fs

Surrounding Variants

5 papers

NM_017534.6

p.G800delFs

c.2398delC

2 papers

NM_017534.6

p.G800fs

c.2398_2399fs

1 paper

NM_017534.6

p.F801fs

c.2401_2402fs

4 papers

NM_017534.6

p.L802*

c.2405T>A

8 papers

NM_017534.6

p.V805A

c.2414T>C

1 paper

NM_017534.6

p.A796D

c.2387C>A

2 papers

NM_017534.6

p.R793Q

c.2378G>A

5 papers

NM_017534.6

p.R793*

c.2377C>T

1 paper

NM_017534.6

p.R809S

c.2427G>T

1 paper

NM_017534.6

p.R809S

c.2427G>C

1 paper

NM_017534.6

p.D785Y

c.2353G>T

2 papers

NM_017534.6

p.R783P

c.2348G>C