Varaico: Literature-Extracted Genetic Variants

Gene:CTH
Variant:p.R62L

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.R62L
c.185G>T
Surrounding Variants
1 paper
NM_001902.6
p.R62H
c.185G>A
1 paper
NM_001902.6
p.S63Y
c.188C>A
1 paper
NM_001902.6
p.S63F
c.188C>T
1 paper
NM_001902.6
p.Y60*
c.180T>A
1 paper
NM_001902.6
p.Y60*
c.180T>G
1 paper
NM_001902.6
p.E59A
c.176A>C
1 paper
NM_001902.6
p.E59K
c.175G>A
1 paper
NM_001902.6
p.P66P
c.198C>T
12 papers
NM_001902.6
p.T67I
c.200C>T
1 paper
NM_001902.6
p.C70Y
c.209G>A
1 paper
NM_001902.6
p.C70S
c.209G>C
1 paper
NM_001902.6
p.C70F
c.209G>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."