Varaico: Literature-Extracted Genetic Variants

Gene:GCLC
Variant:p.E394G

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.E394G
c.1181A>G
Surrounding Variants
1 paper
NM_001498.4
p.D396N
c.1186G>A
1 paper
NM_001498.4
p.D378A
c.1133A>C
5 papers
NM_001498.4
p.H370L
c.1109A>T
1 paper
NM_001498.4
p.Q369insFs
c.1106_1107insT
1 paper
NM_001498.4
p.K352delFs
c.1054delT
1 paper
NM_001498.4
p.K352delFs
c.1055_1056delTT
1 paper
NM_001498.4
p.K352fs
c.1054_1055fs
1 paper
NM_001498.4
p.D347N
c.1039G>A
1 paper
NM_001498.4
p.D333N
c.997G>A
1 paper
NM_001498.4
p.R328Q
c.983G>A
1 paper
NM_001498.4
p.P316L
c.947C>T
1 paper
NM_001498.4
p.P316S
c.946C>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."