Varaico: Literature-Extracted Genetic Variants

Gene:GFRA2
Variant:p.N350S

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.N350S
c.1049A>G
Surrounding Variants
1 paper
NM_001495.5
p.G358S
c.1072G>A
1 paper
NM_001495.5
p.S393I
c.1178G>T
1 paper
NM_001495.5
p.R326C
c.976C>T
1 paper
NM_001495.5
p.P321L
c.962C>T
1 paper
NM_001495.5
p.V318L
c.952G>T
1 paper
NM_001495.5
p.V318L
c.952G>C
1 paper
NM_001495.5
p.A292A
c.876G>A
1 paper
NM_001495.5
p.T281M
c.842C>T
1 paper
NM_001495.5
p.R265Splc
c.795-201C>T
1 paper
NM_001495.5
p.S449L
c.1346C>T
1 paper
NM_001495.5
p.S449S
c.1347G>A
1 paper
NM_001495.5
p.V454V
c.1362G>T
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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."