Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.D26_P27insFs

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.D26_P27insFs
c.78_79insC
Surrounding Variants
1 paper
NM_000161.3
p.D26fs
c.76_77fs
1 paper
NM_000161.3
p.P27insFs
c.79_80insAT
1 paper
NM_000161.3
p.D26delFs
c.76delC
1 paper
NM_000161.3
p.D26_P27insTCT
c.76_80ins9
3 papers
NM_000161.3
p.R25R
c.75G>C
1 paper
NM_000161.3
p.E24_R25insFs
c.72_73ins4
4 papers
NM_000161.3
p.R25Q
c.74G>A
1 paper
NM_000161.3
p.P28insFs
c.82_83insA
2 papers
NM_000161.3
p.R25W
c.73C>T
7 papers
NM_000161.3
p.R25G
c.73C>G
1 paper
NM_000161.3
p.R29W
c.85C>T
1 paper
NM_000161.3
p.E24delFs
c.70delC
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