Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.T383S

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.T383S
c.1148C>G
Surrounding Variants
1 paper
NM_014495.4
p.T383insFs
c.1148_1149insCA
4 papers
NM_014495.4
p.T383S
c.1147A>T
1 paper
NM_014495.4
p.W384insFs
c.1150_1151insC
1 paper
NM_014495.4
p.W384fs
c.1150_1151fs
1 paper
NM_014495.4
p.S382C
c.1145C>G
1 paper
NM_014495.4
p.W384*
c.1151G>A
1 paper
NM_014495.4
p.W384*
c.1152G>A
1 paper
NM_014495.4
p.S382ins1
c.1144_1145insAGA
1 paper
NM_014495.4
p.F381L
c.1143T>A
1 paper
NM_014495.4
p.F381L
c.1143T>G
1 paper
NM_014495.4
p.F381L
c.1141T>C
1 paper
NM_014495.4
p.H386_K387ins10
c.1156_1160ins30
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