Varaico: Literature-Extracted Genetic Variants

Gene:GCLC
Variant:p.H21delFs

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.H21delFs
c.61delG
Surrounding Variants
1 paper
NM_001498.4
p.R23R
c.69G>A
1 paper
NM_001498.4
p.H18H
c.54T>C
1 paper
NM_001498.4
p.H25Q
c.75C>G
1 paper
NM_001498.4
p.H25Q
c.75C>A
1 paper
NM_001498.4
p.T15T
c.45C>A
1 paper
NM_001498.4
p.L28_Q29insFs
c.84_85insGG
1 paper
NM_001498.4
p.E13D
c.39G>T
1 paper
NM_001498.4
p.E13D
c.39G>C
1 paper
NM_001498.4
p.L31L
c.93G>A
1 paper
NM_001498.4
p.L10P
c.29T>C
1 paper
NM_001498.4
p.A36V
c.107C>T
1 paper
NM_001498.4
p.L4L
c.12G>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."