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

1–12 of 395 variants

34 papers

NM_017534.6

p.E706K

c.2116G>A

15 papers

NM_017534.6

p.E1841K

c.5521G>A

9 papers

NM_017534.6

p.T178I

c.533C>T

8 papers

NM_017534.6

p.V805A

c.2414T>C

8 papers

NM_017534.6

p.L1870P

c.5609T>C

8 papers

NM_017534.6

p.L1877P

c.5630T>C

8 papers

NM_017534.6

p.R1927Q

c.5780G>A

6 papers

NM_017534.6

p.R445C

c.1333C>T

6 papers

NM_017534.6

p.R783*

c.2347C>T

6 papers

NM_017534.6

p.R1218*

c.3652C>T

5 papers

NM_017534.6

p.A236T

c.706G>A

5 papers

NM_017534.6

p.M531T

c.1592T>C