Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL1
Variant:p.R120S

ANGPTL1

56 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 276–490UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

angiopoietin like 1

HGNC Previous Symbol

ANGPT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004673.4
p.R120S
c.360A>T
Surrounding Variants
1 paper
NM_004673.4
p.R120S
c.360A>C
1 paper
NM_004673.4
p.K121Q
c.361A>C
1 paper
NM_004673.4
p.E115A
c.344A>C
1 paper
NM_004673.4
p.N111H
c.331A>C
1 paper
NM_004673.4
p.G110E
c.329G>A
1 paper
NM_004673.4
p.T131S
c.391A>T
1 paper
NM_004673.4
p.T131S
c.392C>G
1 paper
NM_004673.4
p.L133_Y134del2
c.397_401del6
1 paper
NM_004673.4
p.E140*
c.418G>T
1 paper
NM_004673.4
p.N147T
c.440A>C
1 paper
NM_004673.4
p.D90delFs
c.270delA
1 paper
NM_004673.4
p.L85F
c.253C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."