Varaico: Literature-Extracted Genetic Variants

Gene:GFRA4
Variant:p.D198D

GFRA4

25 papers

RefSeq Summary

The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyros...

Pfam Domains

GDNFaa 26–105UCSCGDNF/GAS1 domain
GDNFaa 187–241UCSCGDNF/GAS1 domain
GDNFaa 187–241UCSCGDNF/GAS1 domain

Gene Aliases

HGNC Name

GDNF family receptor alpha 4

HGNC Alias Name

persephin receptor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022139.4
p.D198D
c.594C>T
Surrounding Variants
1 paper
NM_022139.4
p.P148_D149insFs
c.444_445ins4
1 paper
NM_022139.4
p.P148_D149insFs
c.444_445ins7
1 paper
NM_022139.4
p.W223*
c.668G>A
1 paper
NM_022139.4
p.W223*
c.669G>A
2 papers
NM_022139.4
p.P237P
c.711G>A
1 paper
NM_022139.4
p.F123S
c.368T>C
1 paper
NM_022139.4
p.P115S
c.343C>T
1 paper
NM_022139.4
p.A92V
c.275C>T
1 paper
NM_022139.4
p.P77L
c.230C>T
1 paper
NM_022139.4
p.Q243_V244Splc
c.730-5C>T
1 paper
NM_022139.4
p.R61C
c.181C>T
1 paper
NM_022139.4
p.G57A
c.170G>C
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