Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.P58S

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.P58S
c.172C>T
Surrounding Variants
1 paper
NM_000514.4
p.P58A
c.172C>G
1 paper
NM_000514.4
p.D56N
c.166G>A
1 paper
NM_000514.4
p.P54L
c.161C>T
1 paper
NM_000514.4
p.D62N
c.184G>A
1 paper
NM_000514.4
p.M53K
c.158T>A
2 papers
NM_000514.4
p.D63insFs
c.187_188ins5
1 paper
NM_000514.4
p.D63N
c.187G>A
1 paper
NM_000514.4
p.N52K
c.156T>A
1 paper
NM_000514.4
p.V64L
c.190G>C
1 paper
NM_000514.4
p.V64A
c.191T>C
3 papers
NM_000514.4
p.S51A
c.151T>G
1 paper
NM_000514.4
p.M65K
c.194T>A
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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."