Varaico: Literature-Extracted Genetic Variants

Gene:GGH
Variant:p.G240D

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.G240D
c.719G>A
Surrounding Variants
1 paper
NM_003878.3
p.Q242R
c.725A>G
1 paper
NM_003878.3
p.E246K
c.736G>A
1 paper
NM_003878.3
p.H260Y
c.778C>T
1 paper
NM_003878.3
p.F269Y
c.806T>A
2 papers
NM_003878.3
p.Y270F
c.809A>T
1 paper
NM_003878.3
p.R280W
c.838C>T
1 paper
NM_003878.3
p.K281E
c.841A>G
1 paper
NM_003878.3
p.N282S
c.845A>G
1 paper
NM_003878.3
p.N282N
c.846C>T
1 paper
NM_003878.3
p.H285Y
c.853C>T
1 paper
NM_003878.3
p.H284_H285delFs
c.852_855del4
1 paper
NM_003878.3
p.E289Q
c.865G>C
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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."