Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.D125Y

GCH1

472 papers

RefSeq Summary

This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into ...

Pfam Domains

GTP_cyclohydroIaa 71–249UCSCGTP cyclohydrolase I

Gene Aliases

HGNC Name

GTP cyclohydrolase 1

HGNC Previous Symbols

DYT5; DYT14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000161.3
p.D125Y
c.373G>T
Surrounding Variants
2 papers
NM_000161.3
p.E124D
c.372A>T
3 papers
NM_000161.3
p.E124D
c.372A>C
1 paper
NM_000161.3
p.E124*
c.370G>T
1 paper
NM_000161.3
p.H126L
c.377A>T
1 paper
NM_000161.3
p.D123G
c.368A>G
1 paper
NM_000161.3
p.D123H
c.367G>C
2 papers
NM_000161.3
p.D127A
c.380A>C
2 papers
NM_000161.3
p.F122fs
c.364_365fs
2 papers
NM_000161.3
p.E128G
c.383A>G
1 paper
NM_000161.3
p.E128A
c.383A>C
2 papers
NM_000161.3
p.I121insFs
c.362dupT
2 papers
NM_000161.3
p.M129V
c.385A>G
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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."