Varaico: Literature-Extracted Genetic Variants

Gene:CTH
Variant:p.D111N

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.D111N
c.331G>A
Surrounding Variants
1 paper
NM_001902.6
p.M110I
c.330G>C
1 paper
NM_001902.6
p.C109Y
c.326G>A
1 paper
NM_001902.6
p.V113A
c.338T>C
2 papers
NM_001902.6
p.I108T
c.323T>C
1 paper
NM_001902.6
p.I108V
c.322A>G
1 paper
NM_001902.6
p.Y114S
c.341A>C
2 papers
NM_001902.6
p.Y114F
c.341A>T
1 paper
NM_001902.6
p.Q106_I107delFs
c.317_321del5
1 paper
NM_001902.6
p.G116S
c.346G>A
1 paper
NM_001902.6
p.G116R
c.346G>C
1 paper
NM_001902.6
p.G116D
c.347G>A
1 paper
NM_001902.6
p.G104R
c.310G>A
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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."