Varaico: Literature-Extracted Genetic Variants

Gene:CTH

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
1–12 of 226 variants
18 papers
NM_001902.6
p.S403I
c.1208G>T
12 papers
NM_001902.6
p.T67I
c.200C>T
5 papers
NM_001902.6
p.S226F
c.677C>T
5 papers
NM_001902.6
p.Q240E
c.718C>G
3 papers
NM_001902.6
p.K165N
c.495G>C
3 papers
NM_001902.6
p.K165N
c.495G>T
3 papers
NM_001902.6
p.E339V
c.1016A>T
2 papers
NM_001902.6
p.I108T
c.323T>C
2 papers
NM_001902.6
p.Y114F
c.341A>T
2 papers
NM_001902.6
p.W155*
c.465G>A
2 papers
NM_001902.6
p.T189S
c.566C>G
2 papers
NM_001902.6
p.Q196_R197Splc
c.589-2A>G
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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."