Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.S17_D20delFs

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.S17_D20delFs
c.50_59del10
Surrounding Variants
1 paper
NM_014495.4
p.S17T
c.49T>A
2 papers
NM_014495.4
p.S17delins
c.50_51delinsGA
1 paper
NM_014495.4
p.R18G
c.52A>G
1 paper
NM_014495.4
p.R18K
c.53G>A
2 papers
NM_014495.4
p.I19delFs
c.55delA
3 papers
NM_014495.4
p.I19fs
c.55_56fs
1 paper
NM_014495.4
p.V14D
c.41T>A
1 paper
NM_014495.4
p.V14G
c.41T>G
1 paper
NM_014495.4
p.D20delFs
c.58delG
1 paper
NM_014495.4
p.D20fs
c.58_59fs
1 paper
NM_014495.4
p.D20A
c.59A>C
1 paper
NM_014495.4
p.D20V
c.59A>T
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