Varaico: Literature-Extracted Genetic Variants

Gene:GCLM
Variant:p.A229V

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
Selected Variant
1 paper
NM_002061.4
p.A229V
c.686C>T
Surrounding Variants
1 paper
NM_002061.4
p.D236H
c.706G>C
1 paper
NM_002061.4
p.L220L
c.660G>A
1 paper
NM_002061.4
p.L220V
c.658C>G
2 papers
NM_002061.4
p.E219G
c.656A>G
1 paper
NM_002061.4
p.P244P
c.732G>A
1 paper
NM_002061.4
p.S251L
c.752C>T
2 papers
NM_002061.4
p.K270R
c.809A>G
1 paper
NM_002061.4
p.E219Splc
c.655+63G>T
1 paper
NM_002061.4
p.H214R
c.641A>G
1 paper
NM_002061.4
p.P198L
c.593C>T
3 papers
NM_002061.4
p.P197L
c.590C>T
2 papers
NM_002061.4
p.M196I
c.588G>A
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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."