Varaico: Literature-Extracted Genetic Variants

Gene:GGH

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
1–12 of 107 variants
40 papers
NM_003878.3
p.T151I
c.452C>T
20 papers
NM_003878.3
p.C6R
c.16T>C
11 papers
NM_003878.3
p.A31T
c.91G>A
2 papers
NM_003878.3
p.H27R
c.80A>G
2 papers
NM_003878.3
p.A31S
c.91G>T
2 papers
NM_003878.3
p.G37Splc
c.109+1307C>T
2 papers
NM_003878.3
p.R44C
c.130C>T
2 papers
NM_003878.3
p.A58A
c.174G>A
2 papers
NM_003878.3
p.I90V
c.268A>G
2 papers
NM_003878.3
p.D106G
c.317A>G
2 papers
NM_003878.3
p.P161L
c.482C>T
2 papers
NM_003878.3
p.Y270F
c.809A>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."