Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.K63T

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
6 papers
NM_014495.4
p.K63T
c.188A>C
Surrounding Variants
1 paper
NM_014495.4
p.K63*
c.187A>T
1 paper
NM_014495.4
p.K63N
c.189G>C
1 paper
NM_014495.4
p.K63N
c.189G>T
1 paper
NM_014495.4
p.K65*
c.193A>T
1 paper
NM_014495.4
p.V61A
c.182T>C
1 paper
NM_014495.4
p.K65N
c.195G>C
1 paper
NM_014495.4
p.K65N
c.195G>T
1 paper
NM_014495.4
p.D59E
c.177C>A
1 paper
NM_014495.4
p.D59E
c.177C>G
1 paper
NM_014495.4
p.D59V
c.176A>T
1 paper
NM_014495.4
p.D59H
c.175G>C
1 paper
NM_014495.4
p.K58E
c.172A>G
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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."