Varaico: Literature-Extracted Genetic Variants

Gene:CTH
Variant:p.L153P

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.L153P
c.458T>C
Surrounding Variants
1 paper
NM_001902.6
p.L153F
c.457C>T
1 paper
NM_001902.6
p.V154I
c.460G>A
1 paper
NM_001902.6
p.K152_L153Splc
c.457-2A>G
1 paper
NM_001902.6
p.W155*
c.464G>A
2 papers
NM_001902.6
p.W155*
c.465G>A
1 paper
NM_001902.6
p.I156T
c.467T>C
1 paper
NM_001902.6
p.I156_P159delFs
c.468_477del10
1 paper
NM_001902.6
p.T158I
c.473C>T
1 paper
NM_001902.6
p.P159H
c.476C>A
1 paper
NM_001902.6
p.T160R
c.479C>G
1 paper
NM_001902.6
p.T160T
c.480A>T
1 paper
NM_001902.6
p.Q164P
c.491A>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."