Varaico: Literature-Extracted Genetic Variants

Gene:GFRA4
Variant:p.R3H

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.R3H
c.8G>A
Surrounding Variants
1 paper
NM_022139.4
p.R3C
c.7C>T
1 paper
NM_022139.4
p.V2insFs
c.4_5insGG
2 papers
NM_022139.4
p.L5delFs
c.13delG
1 paper
NM_022139.4
p.L12L
c.36G>A
3 papers
NM_022139.4
p.L13del1
c.37_39delCAG
2 papers
NM_022139.4
p.L15del1
c.43_44delCAG
1 paper
NM_022139.4
p.S17*
c.50C>A
2 papers
NM_022139.4
p.T34T
c.102G>A
3 papers
NM_022139.4
p.A37_C39del3
c.109_116del9
1 paper
NM_022139.4
p.L42V
c.124T>G
1 paper
NM_022139.4
p.R43L
c.128G>T
1 paper
NM_022139.4
p.G57A
c.170G>C
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