Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL1
Variant:p.T40delFs

ANGPTL1

56 papers

RefSeq Summary

Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin...

Pfam Domains

Fibrinogen_Caa 276–490UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

angiopoietin like 1

HGNC Previous Symbol

ANGPT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004673.4
p.T40delFs
c.118delT
Surrounding Variants
1 paper
NM_004673.4
p.T40I
c.119C>T
1 paper
NM_004673.4
p.D41N
c.121G>A
1 paper
NM_004673.4
p.R38H
c.113G>A
1 paper
NM_004673.4
p.E45delFs
c.133_134delTC
1 paper
NM_004673.4
p.K29Fs
c.86delinsCCFs
1 paper
NM_004673.4
p.I28I
c.84T>A
1 paper
NM_004673.4
p.F53S
c.158T>C
1 paper
NM_004673.4
p.R59K
c.176G>A
1 paper
NM_004673.4
p.G19R
c.55G>C
1 paper
NM_004673.4
p.G19R
c.55G>A
1 paper
NM_004673.4
p.C65S
c.194G>C
1 paper
NM_004673.4
p.C65Y
c.194G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."