Varaico: Literature-Extracted Genetic Variants

Gene:GCLC

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
1–12 of 110 variants
36 papers
NM_001498.4
p.D43D
c.129C>T
6 papers
NM_001498.4
p.R127C
c.379C>T
6 papers
NM_001498.4
p.P158L
c.473C>T
5 papers
NM_001498.4
p.H370L
c.1109A>T
4 papers
NM_001498.4
p.S172T
c.514T>A
4 papers
NM_001498.4
p.P414L
c.1241C>T
3 papers
NM_001498.4
p.R296H
c.887G>A
3 papers
NM_001498.4
p.S591N
c.1772G>A
2 papers
NM_001498.4
p.M1I
c.3G>T
2 papers
NM_001498.4
p.M1I
c.3G>C
2 papers
NM_001498.4
p.M1I
c.3G>A
2 papers
NM_001498.4
p.R128W
c.382C>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."