Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.K114Q

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.K114Q
c.340A>C
Surrounding Variants
1 paper
NM_014495.4
p.K114M
c.341A>T
1 paper
NM_014495.4
p.V113A
c.338T>C
1 paper
NM_014495.4
p.N115T
c.344A>C
1 paper
NM_014495.4
p.E111A
c.332A>C
1 paper
NM_014495.4
p.E111K
c.331G>A
1 paper
NM_014495.4
p.S117A
c.349T>G
1 paper
NM_014495.4
p.N110K
c.330T>A
1 paper
NM_014495.4
p.N110K
c.330T>G
1 paper
NM_014495.4
p.L118F
c.352C>T
4 papers
NM_014495.4
p.N121_K123delFs
c.363_367del5
1 paper
NM_014495.4
p.E119A
c.356A>C
5 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."