Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.E125A

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.E125A
c.374A>C
Surrounding Variants
1 paper
NM_014495.4
p.E125insFs
c.373_374insG
9 papers
NM_014495.4
p.L127F
c.379C>T
1 paper
NM_014495.4
p.K123fs
c.367_368fs
1 paper
NM_014495.4
p.L128L
c.384A>G
2 papers
NM_014495.4
p.S122fs
c.364_365fs
1 paper
NM_014495.4
p.E129K
c.385G>A
33 papers
NM_014495.4
p.E129*
c.385G>T
1 paper
NM_014495.4
p.N121insFs
c.362_363ins5
1 paper
NM_014495.4
p.E129insFs
c.386_387ins10
1 paper
NM_014495.4
p.E129A
c.386A>C
5 papers
NM_014495.4
p.N121fs
c.361_362fs
4 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."