Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.T227I

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
2 papers
NM_000161.3
p.T227I
c.680C>T
Surrounding Variants
3 papers
NM_000161.3
p.T227A
c.679A>G
2 papers
NM_000161.3
p.V226V
c.678G>C
1 paper
NM_000161.3
p.S228R
c.682A>C
4 papers
NM_000161.3
p.V226A
c.677T>C
1 paper
NM_000161.3
p.V226insFs
c.676_677insA
2 papers
NM_000161.3
p.V226fs
c.676_677fs
1 paper
NM_000161.3
p.T229insFs
c.686_687insA
1 paper
NM_000161.3
p.K220_S223del4
c.658_668del12
53 papers
NM_000161.3
p.K224R
c.671A>G
4 papers
NM_000161.3
p.M230I
c.690G>T
2 papers
NM_000161.3
p.M230fs
c.688_689fs
4 papers
NM_000161.3
p.M230I
c.690G>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."