Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.K137*

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.K137*
c.409A>T
Surrounding Variants
1 paper
NM_014495.4
p.K137T
c.410A>C
1 paper
NM_014495.4
p.Q136fs
c.406_407fs
1 paper
NM_014495.4
p.Q136*
c.406C>T
1 paper
NM_014495.4
p.Q136delFs
c.407delA
1 paper
NM_014495.4
p.V138M
c.412G>A
1 paper
NM_014495.4
p.V138L
c.412G>C
1 paper
NM_014495.4
p.V138L
c.412G>T
1 paper
NM_014495.4
p.V138A
c.413T>C
1 paper
NM_014495.4
p.L133L
c.399A>T
1 paper
NM_014495.4
p.L133_L134del2
c.397_401del6
1 paper
NM_014495.4
p.E142A
c.425A>C
2 papers
NM_014495.4
p.K131T
c.392A>C
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."