Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.L6L

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.L6L
c.18C>A
Surrounding Variants
1 paper
NM_014495.4
p.L8del1
c.22_23delCTT
1 paper
NM_014495.4
p.L7insFs
c.20dupT
1 paper
NM_014495.4
p.L6insFs
c.17dupT
1 paper
NM_014495.4
p.L7H
c.20T>A
1 paper
NM_014495.4
p.L8P
c.23T>C
2 papers
NM_014495.4
p.T3K
c.8C>A
1 paper
NM_014495.4
p.V11D
c.32T>A
1 paper
NM_014495.4
p.F2_T3insT
c.4_8ins3
1 paper
NM_014495.4
p.F2insFs
c.4dupT
1 paper
NM_014495.4
p.M1_F2insFs
c.3_4insTT
1 paper
NM_014495.4
p.P12A
c.34C>G
1 paper
NM_014495.4
p.M1_T3delFs
c.3_7del5
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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."