Varaico: Literature-Extracted Genetic Variants

Gene:GFRA1
Variant:p.T432delFs

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
Selected Variant
3 papers
NM_005264.8
p.T432delFs
c.1294delT
Surrounding Variants
2 papers
NM_005264.8
p.T432fs
c.1294_1295fs
2 papers
NM_005264.8
p.G443D
c.1328G>A
1 paper
NM_005264.8
p.E421K
c.1261G>A
1 paper
NM_005264.8
p.L413F
c.1237C>T
1 paper
NM_005264.8
p.Q401L
c.1202A>T
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