Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.R40H

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.R40H
c.119G>A
Surrounding Variants
1 paper
NM_000514.4
p.R40fs
c.118_119fs
1 paper
NM_000514.4
p.R41C
c.121C>T
1 paper
NM_000514.4
p.R42G
c.124C>G
1 paper
NM_000514.4
p.L38F
c.112C>T
2 papers
NM_000514.4
p.L38I
c.112C>A
1 paper
NM_000514.4
p.A43V
c.128C>T
1 paper
NM_000514.4
p.S37A
c.109T>G
1 paper
NM_000514.4
p.R36H
c.107G>A
1 paper
NM_000514.4
p.F45L
c.133T>C
1 paper
NM_000514.4
p.F45I
c.133T>A
1 paper
NM_000514.4
p.D35D
c.105C>T
1 paper
NM_000514.4
p.L38_P44delFs
c.112_131del20
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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."