Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.E138Q

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.E138Q
c.412G>C
Surrounding Variants
1 paper
NM_000514.4
p.E139K
c.415G>A
1 paper
NM_000514.4
p.T136S
c.406A>T
1 paper
NM_000514.4
p.Y134delFs
c.400delA
1 paper
NM_000514.4
p.G133R
c.397G>C
1 paper
NM_000514.4
p.G131S
c.391G>A
1 paper
NM_000514.4
p.D129D
c.387C>T
1 paper
NM_000514.4
p.D129N
c.385G>A
2 papers
NM_000514.4
p.T128S
c.382A>T
1 paper
NM_000514.4
p.C149*
c.447C>A
4 papers
NM_000514.4
p.D150N
c.448G>A
1 paper
NM_000514.4
p.L125insFs
c.373_374insA
5 papers
NM_000514.4
p.T154S
c.460A>T
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."