Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.K38_P39del1

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.K38_P39del1
c.113_115delGCT
Surrounding Variants
3 papers
NM_000161.3
p.P39L
c.116C>T
1 paper
NM_000161.3
p.P40fs
c.118_119fs
1 paper
NM_000161.3
p.P40insFs
c.119dupC
2 papers
NM_000161.3
p.P40fs
c.118_119fs
1 paper
NM_000161.3
p.P39_P40del1
c.116_118delGGG
1 paper
NM_000161.3
p.K38*
c.112A>T
2 papers
NM_000161.3
p.E37E
c.111G>A
1 paper
NM_000161.3
p.R41W
c.121C>T
1 paper
NM_000161.3
p.E37*
c.109G>T
1 paper
NM_000161.3
p.P42L
c.125C>T
1 paper
NM_000161.3
p.A36S
c.106G>T
1 paper
NM_000161.3
p.P42insFs
c.126dupC
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