Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.C149*

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.C149*
c.447C>A
Surrounding Variants
4 papers
NM_000514.4
p.D150N
c.448G>A
5 papers
NM_000514.4
p.T154S
c.460A>T
1 paper
NM_000514.4
p.D157G
c.470A>G
1 paper
NM_000514.4
p.K158E
c.472A>G
2 papers
NM_000514.4
p.K158fs
c.472_473fs
2 papers
NM_000514.4
p.K158delFs
c.474delT
1 paper
NM_000514.4
p.I159I
c.477A>T
1 paper
NM_000514.4
p.E139K
c.415G>A
1 paper
NM_000514.4
p.E138Q
c.412G>C
1 paper
NM_000514.4
p.L163S
c.488T>C
1 paper
NM_000514.4
p.T136S
c.406A>T
1 paper
NM_000514.4
p.Y134delFs
c.400delA
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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."