Varaico: Literature-Extracted Genetic Variants

Gene:CTH
Variant:p.G216Splc

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.G216Splc
c.647-2A>G
Surrounding Variants
1 paper
NM_001902.6
p.V220A
c.659T>C
1 paper
NM_001902.6
p.M222_G223del2
c.664_668del6
1 paper
NM_001902.6
p.G223G
c.669C>A
1 paper
NM_001902.6
p.G223_L224insFs
c.669_670insA
1 paper
NM_001902.6
p.G223G
c.669C>G
5 papers
NM_001902.6
p.S226F
c.677C>T
1 paper
NM_001902.6
p.N228D
c.682A>G
5 papers
NM_001902.6
p.Q240E
c.718C>G
1 paper
NM_001902.6
p.Y213C
c.638A>G
1 paper
NM_001902.6
p.K212delFs
c.636delA
1 paper
NM_001902.6
p.T211A
c.631A>G
1 paper
NM_001902.6
p.S209delFs
c.627delT
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