Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3

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
1–12 of 364 variants
33 papers
NM_014495.4
p.E129*
c.385G>T
11 papers
NM_014495.4
p.M259T
c.776T>C
9 papers
NM_014495.4
p.L127F
c.379C>T
8 papers
NM_014495.4
p.N147_L148delFs
c.439_442del4
7 papers
NM_014495.4
p.E96del1
c.286_288delGAA
7 papers
NM_014495.4
p.Y344S
c.1031A>C
6 papers
NM_014495.4
p.K63T
c.188A>C
6 papers
NM_014495.4
p.S292P
c.874T>C
6 papers
NM_014495.4
p.E375K
c.1123G>A
6 papers
NM_014495.4
p.Y417C
c.1250A>G
5 papers
NM_014495.4
p.G56V
c.167G>T
5 papers
NM_014495.4
p.N121fs
c.361_362fs
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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."