Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.Y83H

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.Y83H
c.247T>C
Surrounding Variants
1 paper
NM_014495.4
p.Y83F
c.248A>T
1 paper
NM_014495.4
p.D84V
c.251A>T
1 paper
NM_014495.4
p.S81A
c.241T>G
1 paper
NM_014495.4
p.S86W
c.257C>G
1 paper
NM_014495.4
p.D79A
c.236A>C
1 paper
NM_014495.4
p.T89A
c.265A>G
4 papers
NM_014495.4
p.N76K
c.228C>A
4 papers
NM_014495.4
p.N76K
c.228C>G
1 paper
NM_014495.4
p.S90delFs
c.270delT
1 paper
NM_014495.4
p.L75R
c.224T>G
1 paper
NM_014495.4
p.E91A
c.272A>C
1 paper
NM_014495.4
p.K74*
c.220A>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."