Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.N110K

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.N110K
c.330T>A
Surrounding Variants
1 paper
NM_014495.4
p.N110K
c.330T>G
1 paper
NM_014495.4
p.E111K
c.331G>A
1 paper
NM_014495.4
p.E111A
c.332A>C
1 paper
NM_014495.4
p.V113A
c.338T>C
1 paper
NM_014495.4
p.K114Q
c.340A>C
1 paper
NM_014495.4
p.K114M
c.341A>T
2 papers
NM_014495.4
p.Q107*
c.319C>T
1 paper
NM_014495.4
p.N115T
c.344A>C
1 paper
NM_014495.4
p.Y104F
c.311A>T
1 paper
NM_014495.4
p.S117A
c.349T>G
2 papers
NM_014495.4
p.Y104H
c.310T>C
1 paper
NM_014495.4
p.L118F
c.352C>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."