Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.K97N

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.K97N
c.291G>C
Surrounding Variants
1 paper
NM_014495.4
p.K97N
c.291G>T
3 papers
NM_014495.4
p.E98K
c.292G>A
1 paper
NM_014495.4
p.E98A
c.293A>C
1 paper
NM_014495.4
p.K97*
c.289A>T
1 paper
NM_014495.4
p.E98E
c.294A>G
1 paper
NM_014495.4
p.E96G
c.287A>G
1 paper
NM_014495.4
p.L99insFs
c.296dupT
1 paper
NM_014495.4
p.R101*
c.301A>T
1 paper
NM_014495.4
p.E94*
c.280G>T
7 papers
NM_014495.4
p.E96del1
c.286_288delGAA
1 paper
NM_014495.4
p.K93del1
c.277_278delAAA
1 paper
NM_014495.4
p.K93_E94del2
c.277_281del6
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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."