Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.N76K

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
4 papers
NM_014495.4
p.N76K
c.228C>A
Surrounding Variants
4 papers
NM_014495.4
p.N76K
c.228C>G
1 paper
NM_014495.4
p.L75R
c.224T>G
1 paper
NM_014495.4
p.D79A
c.236A>C
1 paper
NM_014495.4
p.K74*
c.220A>T
1 paper
NM_014495.4
p.Q73R
c.218A>G
1 paper
NM_014495.4
p.F72L
c.216T>A
1 paper
NM_014495.4
p.F72L
c.216T>G
1 paper
NM_014495.4
p.S81A
c.241T>G
1 paper
NM_014495.4
p.F72L
c.214T>C
1 paper
NM_014495.4
p.D70E
c.210C>G
1 paper
NM_014495.4
p.D70A
c.209A>C
1 paper
NM_014495.4
p.D70G
c.209A>G
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