Varaico: Literature-Extracted Genetic Variants

Gene:GCLC
Variant:p.N637D

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.N637D
c.1909A>G
Surrounding Variants
3 papers
NM_001498.4
p.S591N
c.1772G>A
1 paper
NM_001498.4
p.D550N
c.1648G>A
1 paper
NM_001498.4
p.E546A
c.1637A>C
1 paper
NM_001498.4
p.I537F
c.1609A>T
1 paper
NM_001498.4
p.K527_E528Splc
c.1581+26C>G
1 paper
NM_001498.4
p.I524V
c.1570A>G
2 papers
NM_001498.4
p.S519G
c.1555A>G
1 paper
NM_001498.4
p.N495_K503ins3
c.1485_1508dup24
2 papers
NM_001498.4
p.D499E
c.1497T>G
2 papers
NM_001498.4
p.D499E
c.1497T>A
1 paper
NM_001498.4
p.D499A
c.1496A>C
1 paper
NM_001498.4
p.V498V
c.1494G>A
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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."