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.S1153N

c.3458G>A

Surrounding Variants

1 paper

NM_017534.6

p.E1154K

c.3460G>A

2 papers

NM_017534.6

p.R1155G

c.3463A>G

1 paper

NM_017534.6

p.L1156L

c.3468G>A

1 paper

NM_017534.6

p.E1148Q

c.3442G>C

1 paper

NM_017534.6

p.R1142H

c.3425G>A

1 paper

NM_017534.6

p.I1167N

c.3500T>A

2 papers

NM_017534.6

p.E1168*

c.3502G>T

1 paper

NM_017534.6

p.R1135W

c.3403C>T

1 paper

NM_017534.6

p.R1173Q

c.3518G>A

1 paper

NM_017534.6

p.E1174K

c.3520G>A

1 paper

NM_017534.6

p.R1181C

c.3541C>T

1 paper

NM_017534.6

p.L1124L

c.3372G>A