Varaico: Literature-Extracted Genetic Variants

Gene:GCH1

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
1–12 of 635 variants
53 papers
NM_000161.3
p.K224R
c.671A>G
37 papers
NM_000161.3
p.G203R
c.607G>A
35 papers
NM_000161.3
p.G203R
c.607G>C
34 papers
NM_000161.3
p.P23L
c.68C>T
32 papers
NM_000161.3
p.R184H
c.551G>A
28 papers
NM_000161.3
p.G201E
c.602G>A
28 papers
NM_000161.3
p.R216*
c.646C>T
23 papers
NM_000161.3
p.V204I
c.610G>A
23 papers
NM_000161.3
p.M211I
c.633G>A
22 papers
NM_000161.3
p.R88W
c.262C>T
21 papers
NM_000161.3
p.D134V
c.401A>T
20 papers
NM_000161.3
p.E61*
c.181G>T
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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."