Varaico: Literature-Extracted Genetic Variants

Gene:GFRA1

GFRA1

103 papers

RefSeq Summary

This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature recepto...

Pfam Domains

GDNFaa 29–110UCSCGDNF/GAS1 domain
GDNFaa 154–233UCSCGDNF/GAS1 domain
GDNFaa 243–337UCSCGDNF/GAS1 domain

Gene Aliases

HGNC Name

GDNF family receptor alpha 1

HGNC Previous Symbol

GDNFRA

Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
7 papers
NM_005264.8
p.Y85N
c.253T>A
4 papers
NM_005264.8
p.Y121N
c.361T>A
4 papers
NM_005264.8
p.R226*
c.676C>T
3 papers
NM_005264.8
p.T432delFs
c.1294delT
2 papers
NM_005264.8
p.D14A
c.41A>C
2 papers
NM_005264.8
p.V145G
c.434T>G
2 papers
NM_005264.8
p.C178S
c.533G>C
2 papers
NM_005264.8
p.G210*
c.628G>T
2 papers
NM_005264.8
p.E323A
c.968A>C
2 papers
NM_005264.8
p.T366A
c.1096A>G
2 papers
NM_005264.8
p.L371R
c.1112T>G
2 papers
NM_005264.8
p.T432fs
c.1294_1295fs
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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."