Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.G15delFs

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.G15delFs
c.43delC
Surrounding Variants
1 paper
NM_000161.3
p.G15_A16ins1
c.45_46insGGC
1 paper
NM_000161.3
p.R14Q
c.41G>A
2 papers
NM_000161.3
p.R14W
c.40C>T
1 paper
NM_000161.3
p.P13insFs
c.37_38insC
1 paper
NM_000161.3
p.P13insFs
c.37_38insG
1 paper
NM_000161.3
p.C18C
c.54C>T
4 papers
NM_000161.3
p.C18*
c.54C>A
1 paper
NM_000161.3
p.S19C
c.55A>T
3 papers
NM_000161.3
p.E11A
c.32A>C
1 paper
NM_000161.3
p.G21W
c.61G>T
1 paper
NM_000161.3
p.G21fs
c.61_62fs
1 paper
NM_000161.3
p.G21Fs
c.61_62delinsAACCFs
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