Varaico: Literature-Extracted Genetic Variants

Gene:CTH
Variant:p.E301Q

CTH

200 papers

RefSeq Summary

This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availa...

Pfam Domains

Cys_Met_Meta_PPaa 19–395UCSCCys/Met metabolism PLP-dependent enzyme

Gene Aliases

HGNC Name

cystathionine gamma-lyase

HGNC Previous Name

cystathionase (cystathionine gamma-lyase)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001902.6
p.E301Q
c.901G>C
Surrounding Variants
1 paper
NM_001902.6
p.E301K
c.901G>A
1 paper
NM_001902.6
p.H300Y
c.898C>T
1 paper
NM_001902.6
p.H297R
c.890A>G
1 paper
NM_001902.6
p.H297L
c.890A>T
1 paper
NM_001902.6
p.Q306E
c.916C>G
2 papers
NM_001902.6
p.Q306*
c.916C>T
1 paper
NM_001902.6
p.T311I
c.932C>T
1 paper
NM_001902.6
p.M313T
c.938T>C
1 paper
NM_001902.6
p.V314V
c.942C>T
1 paper
NM_001902.6
p.Y317_T321del5
c.949_962del15
1 paper
NM_001902.6
p.I318L
c.952A>C
1 paper
NM_001902.6
p.I318N
c.953T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."