Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.G431R

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.G431R
c.1291G>C
Surrounding Variants
1 paper
NM_014495.4
p.G431R
c.1291G>A
1 paper
NM_014495.4
p.R430K
c.1289G>A
1 paper
NM_014495.4
p.R430del1
c.1288_1289delAGA
2 papers
NM_014495.4
p.R428M
c.1283G>T
1 paper
NM_014495.4
p.W434*
c.1301G>A
1 paper
NM_014495.4
p.W434*
c.1302G>A
1 paper
NM_014495.4
p.E427Q
c.1279G>C
1 paper
NM_014495.4
p.Q437L
c.1310A>T
5 papers
NM_014495.4
p.G439_Y442del4
c.1315_1325del12
1 paper
NM_014495.4
p.G439V
c.1316G>T
1 paper
NM_014495.4
p.Y442H
c.1324T>C
1 paper
NM_014495.4
p.I444fs
c.1330_1331fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."