Varaico: Literature-Extracted Genetic Variants

Gene:GCLC
Variant:p.R149Splc

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
1 paper
NM_001498.4
p.R149Splc
c.446+233G>A
Surrounding Variants
1 paper
NM_001498.4
p.R149Splc
c.446+101G>A
1 paper
NM_001498.4
p.Q139*
c.415C>T
1 paper
NM_001498.4
p.N138K
c.414T>G
1 paper
NM_001498.4
p.N138K
c.414T>A
2 papers
NM_001498.4
p.R128W
c.382C>T
6 papers
NM_001498.4
p.R127C
c.379C>T
1 paper
NM_001498.4
p.T113I
c.338C>T
1 paper
NM_001498.4
p.E103G
c.308A>G
1 paper
NM_001498.4
p.E96K
c.286G>A
1 paper
NM_001498.4
p.G82G
c.246G>T
1 paper
NM_001498.4
p.G82A
c.245G>C
1 paper
NM_001498.4
p.G82R
c.244G>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."