Varaico: Literature-Extracted Genetic Variants

Gene:GFRA1
Variant:p.Y121N

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
4 papers
NM_005264.8
p.Y121N
c.361T>A
Surrounding Variants
1 paper
NM_005264.8
p.Y121C
c.362A>G
1 paper
NM_005264.8
p.L115delFs
c.343delG
1 paper
NM_005264.8
p.V135I
c.403G>A
1 paper
NM_005264.8
p.Q111fs
c.331_332fs
1 paper
NM_005264.8
p.Y107N
c.319T>A
1 paper
NM_005264.8
p.N86D
c.256A>G
7 papers
NM_005264.8
p.Y85N
c.253T>A
1 paper
NM_005264.8
p.L84F
c.250C>T
1 paper
NM_005264.8
p.R73H
c.218G>A
1 paper
NM_005264.8
p.E67ins1
c.200_201insTCC
1 paper
NM_005264.8
p.G55S
c.163G>A
1 paper
NM_005264.8
p.K45E
c.133A>G
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