Varaico: Literature-Extracted Genetic Variants

Gene:GFRA2
Variant:p.Q104R

GFRA2

42 papers

RefSeq Summary

Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiati...

Pfam Domains

GDNFaa 40–115UCSCGDNF/GAS1 domain
GDNFaa 161–241UCSCGDNF/GAS1 domain
GDNFaa 251–347UCSCGDNF/GAS1 domain

Gene Aliases

HGNC Name

GDNF family receptor alpha 2

HGNC Alias Symbols

RETL2; GDNFRB; NTNRA; TRNR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001495.5
p.Q104R
c.311A>G
Surrounding Variants
1 paper
NM_001495.5
p.R94C
c.280C>T
1 paper
NM_001495.5
p.E45E
c.135G>A
1 paper
NM_001495.5
p.E30Q
c.88G>C
2 papers
NM_001495.5
p.L26L
c.78G>T
1 paper
NM_001495.5
p.L17V
c.49C>G
1 paper
NM_001495.5
p.D14Splc
c.40+5G>C
1 paper
NM_001495.5
p.I2L
c.4A>C
1 paper
NM_001495.5
p.P130P
c.390G>C
1 paper
NM_001495.5
p.V131_D137delFs
c.393_411del19
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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."