Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.R88W

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
22 papers
NM_000161.3
p.R88W
c.262C>T
Surrounding Variants
5 papers
NM_000161.3
p.R88G
c.262C>G
5 papers
NM_000161.3
p.R88L
c.263G>T
1 paper
NM_000161.3
p.Q87H
c.261G>T
2 papers
NM_000161.3
p.Q87fs
c.259_260fs
17 papers
NM_000161.3
p.R88P
c.263G>C
1 paper
NM_000161.3
p.Q87H
c.261G>C
3 papers
NM_000161.3
p.R88Q
c.263G>A
2 papers
NM_000161.3
p.R88delFs
c.262delG
1 paper
NM_000161.3
p.Q87delFs
c.260delT
4 papers
NM_000161.3
p.Q87P
c.260A>C
1 paper
NM_000161.3
p.Q87ins4
c.260_261ins12
2 papers
NM_000161.3
p.Q87delFs
c.259delG
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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."