Varaico: Literature-Extracted Genetic Variants

Gene:GGH
Variant:p.N282S

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.N282S
c.845A>G
Surrounding Variants
1 paper
NM_003878.3
p.N282N
c.846C>T
1 paper
NM_003878.3
p.K281E
c.841A>G
1 paper
NM_003878.3
p.R280W
c.838C>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
1 paper
NM_003878.3
p.I303F
c.907A>T
1 paper
NM_003878.3
p.F311S
c.932T>C
1 paper
NM_003878.3
p.F311F
c.933T>C
1 paper
NM_003878.3
p.Y315insFs
c.943_944insC
1 paper
NM_003878.3
p.Y315*
c.945C>G
2 papers
NM_003878.3
p.Y270F
c.809A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."