Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.N115delFs

GDNF

642 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGF_betaaa 117–210UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

glial cell derived neurotrophic factor

HGNC Alias Symbol

HFB1-GDNF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000514.4
p.N115delFs
c.344delT
Surrounding Variants
2 papers
NM_000514.4
p.G117D
c.350G>A
1 paper
NM_000514.4
p.R112S
c.336G>T
1 paper
NM_000514.4
p.R112S
c.336G>C
1 paper
NM_000514.4
p.G110_R112del0
c.329_334del6
1 paper
NM_000514.4
p.V119A
c.356T>C
1 paper
NM_000514.4
p.R112W
c.334A>T
1 paper
NM_000514.4
p.Q111P
c.332A>C
1 paper
NM_000514.4
p.Q111*
c.331C>T
1 paper
NM_000514.4
p.L125insFs
c.373_374insA
1 paper
NM_000514.4
p.K106R
c.317A>G
1 paper
NM_000514.4
p.G105G
c.315A>T
1 paper
NM_000514.4
p.G105R
c.313G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."