Varaico: Literature-Extracted Genetic Variants

Gene:GCLM

GCLM

80 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 a...

Pfam Domains

Aldo_ket_redaa 70–217UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

glutamate-cysteine ligase modifier subunit

HGNC Previous Symbol

GLCLR

Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
4 papers
NM_002061.4
p.L31L
c.93G>A
3 papers
NM_002061.4
p.P197L
c.590C>T
2 papers
NM_002061.4
p.L43L
c.129T>C
2 papers
NM_002061.4
p.M196I
c.588G>A
2 papers
NM_002061.4
p.E219G
c.656A>G
2 papers
NM_002061.4
p.K270R
c.809A>G
1 paper
NM_002061.4
p.M1I
c.3G>T
1 paper
NM_002061.4
p.T3I
c.8C>T
1 paper
NM_002061.4
p.A8V
c.23C>T
1 paper
NM_002061.4
p.K9E
c.25A>G
1 paper
NM_002061.4
p.L12P
c.35T>C
1 paper
NM_002061.4
p.N27K
c.81C>G
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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."