Varaico: Literature-Extracted Genetic Variants

Gene:GGTLC2
Variant:p.D75N

GGTLC2

27 papers

RefSeq Summary

This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain p...

Pfam Domains

G_glu_transpeptaa 1–252UCSCGamma-glutamyltranspeptidase

Gene Aliases

HGNC Name

gamma-glutamyltransferase light chain 2

HGNC Previous Symbol

GGTL4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_199127.3
p.D75N
c.223G>A
Surrounding Variants
1 paper
NM_199127.3
p.D75H
c.223G>C
1 paper
NM_199127.3
p.E70G
c.209A>G
2 papers
NM_199127.3
p.S81C
c.241A>T
1 paper
NM_199127.3
p.N84S
c.251A>G
1 paper
NM_199127.3
p.S66_V68del3
c.196_203del9
1 paper
NM_199127.3
p.S94fs
c.280_281fs
1 paper
NM_199127.3
p.G102Splc
c.305-4A>G
1 paper
NM_199127.3
p.G116V
c.347G>T
1 paper
NM_199127.3
p.Q120_P121Splc
c.360+47C>A
1 paper
NM_199127.3
p.Q120_P121Splc
c.361-45A>G
1 paper
NM_199127.3
p.A52T
c.154G>A
1 paper
NM_199127.3
p.A44T
c.130G>A
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