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

6 papers

NM_017534.6

p.R1218*

c.3652C>T

Surrounding Variants

1 paper

NM_017534.6

p.R1218P

c.3653G>C

1 paper

NM_017534.6

p.E1208K

c.3622G>A

1 paper

NM_017534.6

p.K1201N

c.3603G>T

1 paper

NM_017534.6

p.K1201N

c.3603G>C

1 paper

NM_017534.6

p.K1200N

c.3600G>T

1 paper

NM_017534.6

p.K1200N

c.3600G>C

3 papers

NM_017534.6

p.L1237F

c.3709C>T

1 paper

NM_017534.6

p.T1243M

c.3728C>T

1 paper

NM_017534.6

p.H1191Y

c.3571C>T

2 papers

NM_017534.6

p.L1189delFs

c.3565delG

1 paper

NM_017534.6

p.L1189fs

c.3565_3566fs

1 paper

NM_017534.6

p.R1181C

c.3541C>T