Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.K206E

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.K206E
c.616A>G
Surrounding Variants
1 paper
NM_000514.4
p.K206R
c.617A>G
1 paper
NM_000514.4
p.C208S
c.622T>A
1 paper
NM_000514.4
p.H203Q
c.609T>G
1 paper
NM_000514.4
p.H203Q
c.609T>A
1 paper
NM_000514.4
p.C208S
c.623G>C
2 papers
NM_000514.4
p.G209A
c.626G>C
1 paper
NM_000514.4
p.C210S
c.628T>A
1 paper
NM_000514.4
p.C210S
c.629G>C
1 paper
NM_001190468.1
p.C227del1
c.679_680delACA
1 paper
NM_001190468.1
p.G226_C227del0
c.676_681del6
1 paper
NM_000514.4
p.L200L
c.600A>C
2 papers
NM_000514.4
p.I211M
c.633C>G
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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."