Varaico: Literature-Extracted Genetic Variants

Gene:GGH
Variant:p.L8delFs

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.L8delFs
c.23delA
Surrounding Variants
1 paper
NM_003878.3
p.L7L
c.19C>T
1 paper
NM_003878.3
p.L7M
c.19C>A
1 paper
NM_003878.3
p.C6F
c.17G>T
1 paper
NM_003878.3
p.C6Y
c.17G>A
20 papers
NM_003878.3
p.C6R
c.16T>C
1 paper
NM_003878.3
p.G12A
c.35G>C
1 paper
NM_003878.3
p.G12D
c.35G>A
1 paper
NM_003878.3
p.L13L
c.39G>C
1 paper
NM_003878.3
p.S3C
c.7A>T
1 paper
NM_003878.3
p.C16C
c.48C>T
1 paper
NM_003878.3
p.G17A
c.50G>C
1 paper
NM_003878.3
p.A19V
c.56C>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."