Varaico: Literature-Extracted Genetic Variants

Gene:GCLC
Variant:p.P158L

GCLC

234 papers

RefSeq Summary

Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit an...

Pfam Domains

GCSaa 1–608UCSCGlutamate-cysteine ligase
GCSaa 149–570UCSCGlutamate-cysteine ligase

Gene Aliases

HGNC Name

glutamate-cysteine ligase catalytic subunit

HGNC Previous Symbols

GLCLC; GLCL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001498.4
p.P158L
c.473C>T
Surrounding Variants
1 paper
NM_001498.4
p.E159D
c.477G>T
1 paper
NM_001498.4
p.E159D
c.477G>C
1 paper
NM_001498.4
p.K161N
c.483A>T
1 paper
NM_001498.4
p.K161N
c.483A>C
1 paper
NM_001498.4
p.G154V
c.461G>T
1 paper
NM_001498.4
p.P164S
c.490C>T
1 paper
NM_001498.4
p.V165L
c.493G>T
1 paper
NM_001498.4
p.E166G
c.497A>G
1 paper
NM_001498.4
p.R149Splc
c.447-1G>C
4 papers
NM_001498.4
p.S172T
c.514T>A
1 paper
NM_001498.4
p.D177Y
c.529G>T
1 paper
NM_001498.4
p.I180T
c.539T>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."