Varaico: Literature-Extracted Genetic Variants

Gene:GGCT
Variant:p.C122Y

GGCT

113 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione hom...

Pfam Domains

AIG2_2aa 78–160UCSCAIG2-like family

Gene Aliases

HGNC Name

gamma-glutamylcyclotransferase

HGNC Previous Symbols

C7orf24; GCTG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024051.4
p.C122Y
c.365G>A
Surrounding Variants
1 paper
NM_024051.4
p.Y125F
c.374A>T
1 paper
NM_024051.4
p.E119*
c.355G>T
1 paper
NM_024051.4
p.N129K
c.387T>G
1 paper
NM_024051.4
p.N129K
c.387T>A
1 paper
NM_024051.4
p.T114I
c.341C>T
1 paper
NM_024051.4
p.Y130*
c.390C>G
1 paper
NM_024051.4
p.Y130*
c.390C>A
1 paper
NM_024051.4
p.E131Q
c.391G>C
1 paper
NM_024051.4
p.V112_A113ins0
c.335_337dupTTG
2 papers
NM_024051.4
p.P134A
c.400C>G
1 paper
NM_024051.4
p.I108M
c.324A>G
1 paper
NM_024051.4
p.P137Q
c.410C>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."