Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.A183V

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.A183V
c.548C>T
Surrounding Variants
2 papers
NM_000514.4
p.A183G
c.548C>G
1 paper
NM_000514.4
p.I182delFs
c.545delA
1 paper
NM_000514.4
p.D185N
c.553G>A
1 paper
NM_000514.4
p.P181L
c.542C>T
1 paper
NM_000514.4
p.D185E
c.555T>A
2 papers
NM_000514.4
p.R180*
c.538A>T
3 papers
NM_000514.4
p.D187D
c.561C>T
1 paper
NM_000514.4
p.L188V
c.562C>G
5 papers
NM_000514.4
p.C178S
c.533G>C
1 paper
NM_000514.4
p.S189S
c.567G>T
1 paper
NM_000514.4
p.L191*
c.572T>G
1 paper
NM_000514.4
p.L191*
c.572T>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."