Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.E142A

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.E142A
c.425A>C
Surrounding Variants
1 paper
NM_014495.4
p.E143A
c.428A>C
1 paper
NM_014495.4
p.Q144_L145insFs
c.432_433insA
8 papers
NM_014495.4
p.N147_L148delFs
c.439_442del4
1 paper
NM_014495.4
p.V138A
c.413T>C
1 paper
NM_014495.4
p.V138M
c.412G>A
1 paper
NM_014495.4
p.V138L
c.412G>C
1 paper
NM_014495.4
p.V138L
c.412G>T
4 papers
NM_014495.4
p.N147fs
c.439_440fs
1 paper
NM_014495.4
p.N147fs
c.439_440fs
1 paper
NM_014495.4
p.K137T
c.410A>C
1 paper
NM_014495.4
p.K137*
c.409A>T
1 paper
NM_014495.4
p.Q136fs
c.406_407fs
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