Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.E32K

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.E32K
c.94G>A
Surrounding Variants
1 paper
NM_014495.4
p.P31_E32delFs
c.93_94delAG
1 paper
NM_014495.4
p.P31A
c.91C>G
1 paper
NM_014495.4
p.P33A
c.97C>G
1 paper
NM_014495.4
p.L29Fs
c.86delinsCCFs
1 paper
NM_014495.4
p.S35T
c.103T>A
1 paper
NM_014495.4
p.S35A
c.103T>G
1 paper
NM_014495.4
p.R36T
c.107G>C
1 paper
NM_014495.4
p.D27E
c.81T>A
1 paper
NM_014495.4
p.D27E
c.81T>G
1 paper
NM_014495.4
p.F26V
c.76T>G
1 paper
NM_014495.4
p.A38D
c.113C>A
1 paper
NM_014495.4
p.M39T
c.116T>C
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