Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.A99A

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.A99A
c.297C>A
Surrounding Variants
3 papers
NM_000161.3
p.A99D
c.296C>A
3 papers
NM_000161.3
p.A99P
c.295G>C
2 papers
NM_000161.3
p.S100L
c.299C>T
2 papers
NM_000161.3
p.A98A
c.294G>T
1 paper
NM_000161.3
p.A98A
c.294G>C
2 papers
NM_000161.3
p.A101T
c.301G>A
7 papers
NM_000161.3
p.A98V
c.293C>T
2 papers
NM_000161.3
p.A98T
c.292G>A
1 paper
NM_000161.3
p.A101V
c.302C>T
1 paper
NM_000161.3
p.W96_R97delFs
c.286_289del4
4 papers
NM_000161.3
p.M102L
c.304A>T
3 papers
NM_000161.3
p.M102L
c.304A>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."