Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.E254D

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.E254D
c.762A>T
Surrounding Variants
5 papers
NM_014495.4
p.G253C
c.757G>T
1 paper
NM_014495.4
p.N251K
c.753C>A
1 paper
NM_014495.4
p.N251K
c.753C>G
2 papers
NM_014495.4
p.Y250C
c.749A>G
11 papers
NM_014495.4
p.M259T
c.776T>C
1 paper
NM_014495.4
p.T248I
c.743C>T
1 paper
NM_014495.4
p.T247S
c.739A>T
1 paper
NM_014495.4
p.R263*
c.787A>T
1 paper
NM_014495.4
p.R263K
c.788G>A
1 paper
NM_014495.4
p.R263S
c.789A>C
1 paper
NM_014495.4
p.R263S
c.789A>T
1 paper
NM_014495.4
p.P264S
c.790C>T
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