Varaico: Literature-Extracted Genetic Variants

Gene:CTH
Variant:p.L334P

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.L334P
c.1001T>C
Surrounding Variants
1 paper
NM_001902.6
p.L337L
c.1009C>T
1 paper
NM_001902.6
p.E339K
c.1015G>A
1 paper
NM_001902.6
p.E339Q
c.1015G>C
1 paper
NM_001902.6
p.E339A
c.1016A>C
3 papers
NM_001902.6
p.E339V
c.1016A>T
1 paper
NM_001902.6
p.E339E
c.1017G>A
1 paper
NM_001902.6
p.E345K
c.1033G>A
1 paper
NM_001902.6
p.E349A
c.1046A>C
1 paper
NM_001902.6
p.L350P
c.1049T>C
1 paper
NM_001902.6
p.N331S
c.992A>G
2 papers
NM_001902.6
p.L329F
c.985C>T
1 paper
NM_001902.6
p.F328S
c.983T>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."