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

15 papers

NM_017534.6

p.E1841K

c.5521G>A

Surrounding Variants

1 paper

NM_017534.6

p.E1841*

c.5521G>T

1 paper

NM_017534.6

p.V1832D

c.5495T>A

1 paper

NM_017534.6

p.R1852L

c.5555G>T

1 paper

NM_017534.6

p.R1852Q

c.5555G>A

1 paper

NM_017534.6

p.R1826Q

c.5477G>A

1 paper

NM_017534.6

p.V1825fs

c.5473_5474fs

1 paper

NM_017534.6

p.R1824_V1825Splc

c.5473-1G>A

1 paper

NM_017534.6

p.T1860M

c.5579C>T

1 paper

NM_017534.6

p.E1807*

c.5419G>T

1 paper

NM_017534.6

p.K1865R

c.5594A>G

2 papers

NM_017534.6

p.R1802C

c.5404C>T

1 paper

NM_017534.6

p.R1869S

c.5607G>T