Varaico: Literature-Extracted Genetic Variants

Gene:GFRA1
Variant:p.N300S

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
1 paper
NM_005264.8
p.N300S
c.899A>G
Surrounding Variants
1 paper
NM_005264.8
p.D303H
c.907G>C
1 paper
NM_005264.8
p.S305N
c.914G>A
1 paper
NM_005264.8
p.T295A
c.883A>G
1 paper
NM_005264.8
p.A310T
c.928G>A
2 papers
NM_005264.8
p.E323A
c.968A>C
1 paper
NM_005264.8
p.F332L
c.994T>C
1 paper
NM_005264.8
p.F332L
c.996C>G
1 paper
NM_005264.8
p.F332L
c.996C>A
1 paper
NM_005264.8
p.G294Splc
c.880+21G>A
1 paper
NM_005264.8
p.S290L
c.869C>T
1 paper
NM_005264.8
p.Y289insFs
c.866_867insG
1 paper
NM_005264.8
p.L286P
c.857T>C
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