Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.P32L

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.P32L
c.95C>T
Surrounding Variants
1 paper
NM_000514.4
p.P32T
c.94C>A
7 papers
NM_000514.4
p.A31A
c.93G>A
1 paper
NM_000514.4
p.A33A
c.99C>T
1 paper
NM_000514.4
p.E30E
c.90G>A
1 paper
NM_000514.4
p.E34delFs
c.100delC
1 paper
NM_000514.4
p.P29insFs
c.86_87insC
1 paper
NM_000514.4
p.E30K
c.88G>A
1 paper
NM_000514.4
p.D35N
c.103G>A
1 paper
NM_000514.4
p.P29P
c.87C>G
1 paper
NM_000514.4
p.P29L
c.86C>T
1 paper
NM_000514.4
p.D35D
c.105C>T
1 paper
NM_000514.4
p.P29S
c.85C>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."