Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.L50H

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.L50H
c.149T>A
Surrounding Variants
1 paper
NM_014495.4
p.L51V
c.151C>G
1 paper
NM_014495.4
p.L50_D59del10
c.148_176del30
1 paper
NM_014495.4
p.L51P
c.152T>C
1 paper
NM_014495.4
p.Q52*
c.154C>T
1 paper
NM_014495.4
p.L53M
c.157T>A
1 paper
NM_014495.4
p.L53S
c.158T>C
1 paper
NM_014495.4
p.I45V
c.133A>G
1 paper
NM_014495.4
p.K44N
c.132A>T
1 paper
NM_014495.4
p.I45delFs
c.133_134delAT
5 papers
NM_014495.4
p.G56V
c.167G>T
1 paper
NM_014495.4
p.V43A
c.128T>C
2 papers
NM_014495.4
p.V43I
c.127G>A
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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."