Varaico: Literature-Extracted Genetic Variants

Gene:GFRA2
Variant:p.K176E

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.K176E
c.526A>G
Surrounding Variants
1 paper
NM_001495.5
p.R187C
c.559C>T
1 paper
NM_001495.5
p.E188delins
c.563delinsT
1 paper
NM_001495.5
p.R198H
c.593G>A
1 paper
NM_001495.5
p.T148I
c.443C>T
1 paper
NM_001495.5
p.S223Y
c.668C>A
1 paper
NM_001495.5
p.R234W
c.700C>T
1 paper
NM_001495.5
p.S242F
c.725C>T
1 paper
NM_001495.5
p.D245G
c.734A>G
1 paper
NM_001495.5
p.D253D
c.759C>T
1 paper
NM_001495.5
p.R255H
c.764G>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."