Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.K2N

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
2 papers
NM_000514.4
p.K2N
c.6G>T
Surrounding Variants
1 paper
NM_000514.4
p.L3insFs
c.7_8insGG
1 paper
NM_000514.4
p.K2insFs
c.4_5insGG
1 paper
NM_000514.4
p.M1I
c.3G>T
1 paper
NM_000514.4
p.M1_K2insFs
c.3_4insT
1 paper
NM_000514.4
p.M1I
c.3G>C
1 paper
NM_000514.4
p.M1I
c.3G>A
1 paper
NM_000514.4
p.M1delFs
c.2delA
1 paper
NM_000514.4
p.L3delFs
c.7delA
1 paper
NM_000514.4
p.M1T
c.2T>C
1 paper
NM_000514.4
p.M1K
c.2T>A
1 paper
NM_000514.4
p.M1V
c.1A>G
1 paper
NM_000514.4
p.V6A
c.17T>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."