Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.E410A

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.E410A
c.1229A>C
Surrounding Variants
1 paper
NM_014495.4
p.N411D
c.1231A>G
2 papers
NM_014495.4
p.C408R
c.1222T>C
1 paper
NM_014495.4
p.E407K
c.1219G>A
2 papers
NM_014495.4
p.W404*
c.1212G>A
2 papers
NM_014495.4
p.W404*
c.1211G>A
1 paper
NM_014495.4
p.W404L
c.1211G>T
1 paper
NM_014495.4
p.W404G
c.1210T>G
6 papers
NM_014495.4
p.Y417C
c.1250A>G
1 paper
NM_014495.4
p.G401A
c.1202G>C
2 papers
NM_014495.4
p.G400fs
c.1198_1199fs
1 paper
NM_014495.4
p.E427Q
c.1279G>C
2 papers
NM_014495.4
p.R428M
c.1283G>T
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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."