Varaico: Literature-Extracted Genetic Variants

Gene:GFRA3
Variant:p.F304V

GFRA3

29 papers

RefSeq Summary

The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine k...

Pfam Domains

GDNFaa 44–125UCSCGDNF/GAS1 domain
GDNFaa 162–239UCSCGDNF/GAS1 domain
GDNFaa 248–340UCSCGDNF/GAS1 domain

Gene Aliases

HGNC Name

GDNF family receptor alpha 3

HGNC Alias Symbol

GFRa-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001496.4
p.F304V
c.910T>G
Surrounding Variants
1 paper
NM_001496.4
p.R319*
c.955C>T
1 paper
NM_001496.4
p.M330I
c.990G>T
1 paper
NM_001496.4
p.M330I
c.990G>C
1 paper
NM_001496.4
p.M330I
c.990G>A
1 paper
NM_001496.4
p.L295L
c.885G>A
2 papers
NM_001496.4
p.Q371_N372Splc
c.1113+39G>A
2 papers
NM_001496.4
p.T390M
c.1169C>T
1 paper
NM_001496.4
p.P259P
c.777G>A
2 papers
NM_001496.4
p.A236T
c.706G>A
1 paper
NM_001496.4
p.R230H
c.689G>A
1 paper
NM_001496.4
p.G228R
c.682G>C
1 paper
NM_001496.4
p.G228R
c.682G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."