Varaico: Literature-Extracted Genetic Variants

Gene:GGH
Variant:p.Y127C

GGH

138 papers

RefSeq Summary

This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008].

Pfam Domains

Peptidase_C26aa 34–239UCSCPeptidase C26

Gene Aliases

HGNC Name

gamma-glutamyl hydrolase

HGNC Alias Symbol

GATD10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003878.3
p.Y127C
c.380A>G
Surrounding Variants
1 paper
NM_003878.3
p.D124E
c.372T>G
1 paper
NM_003878.3
p.W131R
c.391T>C
1 paper
NM_003878.3
p.W131*
c.393G>A
1 paper
NM_003878.3
p.F122F
c.366T>C
1 paper
NM_003878.3
p.T133K
c.398C>A
1 paper
NM_003878.3
p.S121G
c.361A>G
1 paper
NM_003878.3
p.F137S
c.410T>C
1 paper
NM_003878.3
p.L142L
c.424C>T
1 paper
NM_003878.3
p.L142M
c.424C>A
1 paper
NM_003878.3
p.G146R
c.436G>A
1 paper
NM_003878.3
p.L149L
c.447A>G
1 paper
NM_003878.3
p.T151A
c.451A>G
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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."