Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.S48T

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.S48T
c.143G>C
Surrounding Variants
1 paper
NM_000514.4
p.L47L
c.141G>A
1 paper
NM_000514.4
p.D50Y
c.148G>T
1 paper
NM_000514.4
p.A46V
c.137C>T
1 paper
NM_000514.4
p.D50D
c.150C>T
1 paper
NM_000514.4
p.S51insFs
c.151_152insC
1 paper
NM_000514.4
p.F45L
c.135C>G
1 paper
NM_000514.4
p.F45L
c.135C>A
1 paper
NM_000514.4
p.L38_P44delFs
c.112_131del20
1 paper
NM_000514.4
p.S51Splc
c.151+1G>T
1 paper
NM_000514.4
p.S51Splc
c.151+1G>C
1 paper
NM_000514.4
p.S51Splc
c.151+1G>A
1 paper
NM_000514.4
p.F45L
c.133T>C
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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."