Varaico: Literature-Extracted Genetic Variants

Gene:GCLC
Variant:p.I293_D294Fs

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.I293_D294Fs
c.879_880delinsAFs
Surrounding Variants
1 paper
NM_001498.4
p.D294H
c.880G>C
3 papers
NM_001498.4
p.R296H
c.887G>A
1 paper
NM_001498.4
p.G288D
c.863G>A
1 paper
NM_001498.4
p.G288S
c.862G>A
1 paper
NM_001498.4
p.R309P
c.926G>C
1 paper
NM_001498.4
p.V276_M277Splc
c.829-1G>A
1 paper
NM_001498.4
p.R312Q
c.935G>A
1 paper
NM_001498.4
p.L314delFs
c.941_942delCA
1 paper
NM_001498.4
p.V276_M277Splc
c.828+3A>G
1 paper
NM_001498.4
p.A256P
c.766G>C
1 paper
NM_001498.4
p.F254L
c.762C>G
1 paper
NM_001498.4
p.F254L
c.762C>A
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