Varaico: Literature-Extracted Genetic Variants

Gene:CTH
Variant:p.S403I

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
18 papers
NM_001902.6
p.S403I
c.1208G>T
Surrounding Variants
1 paper
NM_001902.6
p.S405R
c.1215C>G
1 paper
NM_001902.6
p.S405S
c.1215C>T
1 paper
NM_001902.6
p.*406Y
c.1218G>T
1 paper
NM_001902.6
p.Q392E
c.1174C>G
1 paper
NM_001902.6
p.S377A
c.1129T>G
1 paper
NM_001902.6
p.L376insFs
c.1126_1127insG
1 paper
NM_001902.6
p.R375Q
c.1124G>A
1 paper
NM_001902.6
p.D371D
c.1113C>T
1 paper
NM_001902.6
p.L367F
c.1099C>T
1 paper
NM_001902.6
p.V366V
c.1098C>A
1 paper
NM_001902.6
p.V366V
c.1098C>G
1 paper
NM_001902.6
p.R364I
c.1091G>T
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