Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.K107fs

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.K107fs
c.319_320fs
Surrounding Variants
1 paper
NM_000161.3
p.K107E
c.319A>G
2 papers
NM_000161.3
p.K107R
c.320A>G
3 papers
NM_000161.3
p.K107K
c.321G>A
8 papers
NM_000161.3
p.T106I
c.317C>T
1 paper
NM_000161.3
p.T106S
c.317C>G
5 papers
NM_000161.3
p.G108S
c.322G>A
1 paper
NM_000161.3
p.F105ins0
c.313_315dupTTC
5 papers
NM_000161.3
p.G108V
c.323G>T
2 papers
NM_000161.3
p.G108A
c.323G>C
17 papers
NM_000161.3
p.G108D
c.323G>A
1 paper
NM_000161.3
p.F105L
c.315C>A
1 paper
NM_000161.3
p.F105C
c.314T>G
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