Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.M39T

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.M39T
c.116T>C
Surrounding Variants
1 paper
NM_014495.4
p.L40delFs
c.118delT
1 paper
NM_014495.4
p.A38D
c.113C>A
2 papers
NM_014495.4
p.D41N
c.121G>A
1 paper
NM_014495.4
p.D41G
c.122A>G
1 paper
NM_014495.4
p.D41D
c.123C>T
3 papers
NM_014495.4
p.D42N
c.124G>A
1 paper
NM_014495.4
p.D42A
c.125A>C
1 paper
NM_014495.4
p.R36T
c.107G>C
2 papers
NM_014495.4
p.V43I
c.127G>A
1 paper
NM_014495.4
p.V43A
c.128T>C
1 paper
NM_014495.4
p.S35T
c.103T>A
1 paper
NM_014495.4
p.S35A
c.103T>G
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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."