Varaico: Literature-Extracted Genetic Variants

Gene:GFRA1
Variant:p.D14Splc

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.D14Splc
c.40+8G>A
Surrounding Variants
1 paper
NM_005264.8
p.T5_L12delFs
c.15_36del22
1 paper
NM_005264.8
p.L12L
c.36C>G
1 paper
NM_005264.8
p.T5T
c.15C>A
1 paper
NM_005264.8
p.L3insFs
c.7_8insGG
1 paper
NM_005264.8
p.F2insFs
c.4_5insGG
2 papers
NM_005264.8
p.D14A
c.41A>C
1 paper
NM_005264.8
p.G23delFs
c.69delG
1 paper
NM_005264.8
p.V30V
c.90G>A
1 paper
NM_005264.8
p.K45E
c.133A>G
1 paper
NM_005264.8
p.G55S
c.163G>A
1 paper
NM_005264.8
p.E67ins1
c.200_201insTCC
1 paper
NM_005264.8
p.R73H
c.218G>A
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