Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.A84A

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.A84A
c.252A>G
Surrounding Variants
1 paper
NM_000514.4
p.V85M
c.253G>A
1 paper
NM_000514.4
p.Q82Q
c.246A>G
1 paper
NM_000514.4
p.R91W
c.271C>T
1 paper
NM_000514.4
p.R91G
c.271C>G
1 paper
NM_000514.4
p.R91P
c.272G>C
1 paper
NM_000514.4
p.R91Q
c.272G>A
29 papers
NM_000514.4
p.R93W
c.277C>T
NM_001190468.1
p.R110W
c.328C>T
4 papers
NM_001190468.1
p.R110Q
c.329G>A
NM_000514.4
p.R93Q
c.278G>A
1 paper
NM_000514.4
p.L75_K76insFs
c.225_226insAC
1 paper
NM_000514.4
p.I68_T71del4
c.202_212del12
1 paper
NM_000514.4
p.A97S
c.289G>T
1 paper
NM_000514.4
p.A97T
c.289G>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."