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.K1099N

c.3297G>C

Surrounding Variants

1 paper

NM_017534.6

p.K1099N

c.3297G>T

1 paper

NM_017534.6

p.I1100T

c.3299T>C

3 papers

NM_017534.6

p.E1103V

c.3308A>T

3 papers

NM_017534.6

p.Q1111*

c.3331C>T

2 papers

NM_017534.6

p.K1112E

c.3334A>G

1 paper

NM_017534.6

p.E1084del1

c.3250_3251delTTC

2 papers

NM_017534.6

p.Q1081Q

c.3243A>G

1 paper

NM_017534.6

p.L1124L

c.3372G>A

1 paper

NM_017534.6

p.A1068_D1074del0

c.3202_3222del21

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.R1135W

c.3403C>T