Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.P9ins1

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.P9ins1
c.26_27insTCT
Surrounding Variants
1 paper
NM_000161.3
p.P9S
c.25C>T
1 paper
NM_000161.3
p.A8ins1
c.23_24insCAG
1 paper
NM_000161.3
p.A8S
c.22G>T
1 paper
NM_000161.3
p.A8P
c.22G>C
3 papers
NM_000161.3
p.E11A
c.32A>C
1 paper
NM_000161.3
p.R7fs
c.19_20fs
1 paper
NM_000161.3
p.P5P
c.15T>A
1 paper
NM_000161.3
p.P13insFs
c.37_38insG
1 paper
NM_000161.3
p.P13insFs
c.37_38insC
1 paper
NM_000161.3
p.P5A
c.13C>G
2 papers
NM_000161.3
p.R14W
c.40C>T
1 paper
NM_000161.3
p.R14Q
c.41G>A
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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."