Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.I373_P374insG

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.I373_P374insG
c.1117_1121ins3
Surrounding Variants
1 paper
NM_014495.4
p.N371I
c.1112A>T
1 paper
NM_014495.4
p.P374P
c.1122G>A
1 paper
NM_014495.4
p.N371fs
c.1111_1112fs
6 papers
NM_014495.4
p.E375K
c.1123G>A
1 paper
NM_014495.4
p.L379*
c.1136T>A
1 paper
NM_014495.4
p.L379F
c.1137G>C
1 paper
NM_014495.4
p.L379F
c.1137G>T
1 paper
NM_014495.4
p.F381L
c.1141T>C
1 paper
NM_014495.4
p.A364V
c.1091C>T
1 paper
NM_014495.4
p.F381L
c.1143T>A
1 paper
NM_014495.4
p.F381L
c.1143T>G
1 paper
NM_014495.4
p.S382ins1
c.1144_1145insAGA
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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."