Varaico: Literature-Extracted Genetic Variants

Gene:GFRA1
Variant:p.Q198E

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.Q198E
c.592C>G
Surrounding Variants
1 paper
NM_005264.8
p.A195S
c.583G>T
1 paper
NM_005264.8
p.F200del1
c.598_599delAAA
1 paper
NM_005264.8
p.K194K
c.582G>A
1 paper
NM_005264.8
p.P204L
c.611C>T
1 paper
NM_001145453.4
p.R184R
c.552C>T
1 paper
NM_005264.8
p.N188T
c.563A>C
2 papers
NM_005264.8
p.G210*
c.628G>T
1 paper
NM_005264.8
p.N184N
c.552C>T
1 paper
NM_005264.8
p.T179T
c.537C>T
2 papers
NM_005264.8
p.C178S
c.533G>C
4 papers
NM_005264.8
p.R226*
c.676C>T
1 paper
NM_005264.8
p.E237E
c.711G>A
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