Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.P13insFs

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.P13insFs
c.37_38insG
Surrounding Variants
1 paper
NM_000161.3
p.P13insFs
c.37_38insC
2 papers
NM_000161.3
p.R14W
c.40C>T
1 paper
NM_000161.3
p.R14Q
c.41G>A
3 papers
NM_000161.3
p.E11A
c.32A>C
1 paper
NM_000161.3
p.G15_A16ins1
c.45_46insGGC
1 paper
NM_000161.3
p.G15delFs
c.43delC
1 paper
NM_000161.3
p.P9ins1
c.26_27insTCT
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
1 paper
NM_000161.3
p.C18C
c.54C>T
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