Varaico: Literature-Extracted Genetic Variants

Gene:GGH
Variant:p.R75Splc

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.R75Splc
c.225-1947C>T
Surrounding Variants
1 paper
NM_003878.3
p.E80Q
c.238G>C
1 paper
NM_003878.3
p.Y83S
c.248A>C
2 papers
NM_003878.3
p.I90V
c.268A>G
1 paper
NM_003878.3
p.V74I
c.220G>A
1 paper
NM_003878.3
p.P73A
c.217C>G
1 paper
NM_003878.3
p.R70K
c.209G>A
2 papers
NM_003878.3
p.A58A
c.174G>A
1 paper
NM_003878.3
p.Y55C
c.164A>G
1 paper
NM_003878.3
p.Y54H
c.160T>C
1 paper
NM_003878.3
p.N50N
c.150C>T
1 paper
NM_003878.3
p.M48I
c.144G>A
1 paper
NM_003878.3
p.V47F
c.139G>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."