Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL2
Variant:p.R454R

ANGPTL2

89 papers

RefSeq Summary

Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin...

Pfam Domains

Fibrinogen_Caa 274–488UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

angiopoietin like 2

HGNC Alias Symbols

ARP2; HARP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012098.3
p.R454R
c.1362C>T
Surrounding Variants
1 paper
NM_012098.3
p.V451fs
c.1351_1352fs
1 paper
NM_012098.3
p.V451insFs
c.1352_1353insG
1 paper
NM_012098.3
p.S446Y
c.1337C>A
1 paper
NM_012098.3
p.D464D
c.1392C>T
1 paper
NM_012098.3
p.V482M
c.1444G>A
1 paper
NM_012098.3
p.P489L
c.1466C>T
1 paper
NM_012098.3
p.N412Y
c.1234A>T
1 paper
NM_012098.3
p.G402S
c.1204G>A
2 papers
NM_012098.3
p.R399H
c.1196G>A
1 paper
NM_012098.3
p.L397delFs
c.1190delA
1 paper
NM_012098.3
p.Y393C
c.1178A>G
1 paper
NM_012098.3
p.S390S
c.1170C>T
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