Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.L53M

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.L53M
c.157T>A
Surrounding Variants
1 paper
NM_014495.4
p.L53S
c.158T>C
1 paper
NM_014495.4
p.Q52*
c.154C>T
1 paper
NM_014495.4
p.L51P
c.152T>C
1 paper
NM_014495.4
p.L51V
c.151C>G
1 paper
NM_014495.4
p.L50H
c.149T>A
5 papers
NM_014495.4
p.G56V
c.167G>T
1 paper
NM_014495.4
p.L50_D59del10
c.148_176del30
1 paper
NM_014495.4
p.K58E
c.172A>G
1 paper
NM_014495.4
p.D59H
c.175G>C
1 paper
NM_014495.4
p.D59V
c.176A>T
1 paper
NM_014495.4
p.D59E
c.177C>A
1 paper
NM_014495.4
p.D59E
c.177C>G
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