Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.P30S

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.P30S
c.88C>T
Surrounding Variants
2 papers
NM_000161.3
p.R29R
c.87G>T
1 paper
NM_000161.3
p.P30R
c.89C>G
2 papers
NM_000161.3
p.R29Q
c.86G>A
1 paper
NM_000161.3
p.R29delFs
c.85delG
1 paper
NM_000161.3
p.G31insFs
c.91_92ins5
2 papers
NM_000161.3
p.G31R
c.91G>C
2 papers
NM_000161.3
p.G31R
c.91G>A
1 paper
NM_000161.3
p.R29W
c.85C>T
1 paper
NM_000161.3
p.G31fs
c.91_92fs
1 paper
NM_000161.3
p.P28insFs
c.82_83insA
1 paper
NM_000161.3
p.P32T
c.94C>A
1 paper
NM_000161.3
p.P32P
c.96C>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."