Varaico: Literature-Extracted Genetic Variants

Gene:CTH
Variant:p.I167insFs

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.I167insFs
c.500_501insTT
Surrounding Variants
3 papers
NM_001902.6
p.K165N
c.495G>C
3 papers
NM_001902.6
p.K165N
c.495G>T
1 paper
NM_001902.6
p.D168D
c.504C>T
1 paper
NM_001902.6
p.Q164H
c.492G>C
1 paper
NM_001902.6
p.Q164H
c.492G>T
1 paper
NM_001902.6
p.Q164P
c.491A>C
1 paper
NM_001902.6
p.A173T
c.517G>A
1 paper
NM_001902.6
p.A173P
c.517G>C
1 paper
NM_001902.6
p.T160T
c.480A>T
1 paper
NM_001902.6
p.T160R
c.479C>G
1 paper
NM_001902.6
p.P159H
c.476C>A
1 paper
NM_001902.6
p.I175T
c.524T>C
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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."