Varaico: Literature-Extracted Genetic Variants

Gene:GCLM
Variant:p.T73N

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.T73N
c.218C>A
Surrounding Variants
1 paper
NM_002061.4
p.A93Splc
c.277+44C>T
1 paper
NM_002061.4
p.D45A
c.134A>C
2 papers
NM_002061.4
p.L43L
c.129T>C
1 paper
NM_002061.4
p.L43P
c.128T>C
1 paper
NM_002061.4
p.A93Splc
c.278-52G>A
1 paper
NM_002061.4
p.E99A
c.296A>C
1 paper
NM_002061.4
p.S100A
c.298T>G
1 paper
NM_002061.4
p.S105L
c.314C>T
1 paper
NM_002061.4
p.I127M
c.381T>G
1 paper
NM_002061.4
p.P130T
c.388C>A
1 paper
NM_002061.4
p.Q144*
c.430C>T
1 paper
NM_002061.4
p.S156I
c.467G>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."