Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.T16A

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.T16A
c.46A>G
Surrounding Variants
1 paper
NM_000514.4
p.T16S
c.47C>G
1 paper
NM_000514.4
p.A17G
c.50C>G
1 paper
NM_000514.4
p.L14H
c.41T>A
2 papers
NM_000514.4
p.A17A
c.51G>T
1 paper
NM_000514.4
p.S18S
c.54C>T
1 paper
NM_000514.4
p.L13L
c.37C>T
1 paper
NM_000514.4
p.D5_V12delFs
c.15_36del22
1 paper
NM_000514.4
p.A19V
c.56C>T
1 paper
NM_000514.4
p.F20insFs
c.58_59ins7
7 papers
NM_000514.4
p.P21S
c.61C>T
1 paper
NM_000514.4
p.P21R
c.62C>G
1 paper
NM_000514.4
p.C10S
c.29G>C
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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."