Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.Q107*

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
2 papers
NM_014495.4
p.Q107*
c.319C>T
Surrounding Variants
1 paper
NM_014495.4
p.Y104F
c.311A>T
2 papers
NM_014495.4
p.Y104H
c.310T>C
1 paper
NM_014495.4
p.N110K
c.330T>A
1 paper
NM_014495.4
p.N110K
c.330T>G
1 paper
NM_014495.4
p.T103A
c.307A>G
1 paper
NM_014495.4
p.E111K
c.331G>A
1 paper
NM_014495.4
p.E111A
c.332A>C
1 paper
NM_014495.4
p.R101*
c.301A>T
1 paper
NM_014495.4
p.V113A
c.338T>C
1 paper
NM_014495.4
p.K114Q
c.340A>C
1 paper
NM_014495.4
p.K114M
c.341A>T
1 paper
NM_014495.4
p.L99insFs
c.296dupT
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