Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.V119A

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.V119A
c.356T>C
Surrounding Variants
2 papers
NM_000514.4
p.G117D
c.350G>A
1 paper
NM_000514.4
p.N115delFs
c.344delT
1 paper
NM_000514.4
p.L125insFs
c.373_374insA
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.R112W
c.334A>T
1 paper
NM_000514.4
p.Q111P
c.332A>C
1 paper
NM_000514.4
p.Q111*
c.331C>T
2 papers
NM_000514.4
p.T128S
c.382A>T
1 paper
NM_000514.4
p.D129N
c.385G>A
1 paper
NM_000514.4
p.D129D
c.387C>T
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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."