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.L1061F

c.3181C>T

Surrounding Variants

2 papers

NM_017534.6

p.L1061V

c.3181C>G

1 paper

NM_017534.6

p.K1058N

c.3174G>T

1 paper

NM_017534.6

p.K1058N

c.3174G>C

2 papers

NM_017534.6

p.K1048_L1054del0

c.3142_3162del21

1 paper

NM_017534.6

p.L1054P

c.3161T>C

2 papers

NM_017534.6

p.R1051C

c.3151C>T

1 paper

NM_017534.6

p.L1065_I1072ins2

c.3195_3215dup21

1 paper

NM_017534.6

p.L1065_I1072del0

c.3195_3215del21

1 paper

NM_017534.6

p.A1068_D1074del0

c.3202_3222del21

1 paper

NM_017534.6

p.Q1046E

c.3136C>G

1 paper

NM_017534.6

p.E1045*

c.3133G>T

2 papers

NM_017534.6

p.S1043A

c.3127T>G