Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.S292*

ANGPTL3

186 papers

RefSeq Summary

This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal c...

Pfam Domains

Fibrinogen_Caa 242–454UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

angiopoietin like 3

HGNC Previous Symbol

ANGPT5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014495.4
p.S292*
c.875C>A
Surrounding Variants
1 paper
NM_014495.4
p.S292*
c.875C>G
6 papers
NM_014495.4
p.S292P
c.874T>C
3 papers
NM_014495.4
p.D290H
c.868G>C
5 papers
NM_014495.4
p.F295L
c.883T>C
1 paper
NM_014495.4
p.F295S
c.884T>C
5 papers
NM_014495.4
p.F295L
c.885C>A
5 papers
NM_014495.4
p.F295L
c.885C>G
1 paper
NM_014495.4
p.N296S
c.887A>G
5 papers
NM_014495.4
p.R288Q
c.863G>A
1 paper
NM_014495.4
p.R288*
c.862C>T
1 paper
NM_014495.4
p.N296K
c.888T>A
1 paper
NM_014495.4
p.N296K
c.888T>G
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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."