Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.K107_Q110delFs

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
2 papers
NM_000161.3
p.K107_Q110delFs
c.320_329del10
Surrounding Variants
2 papers
NM_000161.3
p.Q110fs
c.328_329fs
11 papers
NM_000161.3
p.Q110insFs
c.329_330insA
2 papers
NM_000161.3
p.E111*
c.331G>T
2 papers
NM_000161.3
p.E111K
c.331G>A
3 papers
NM_000161.3
p.E111fs
c.331_332fs
16 papers
NM_000161.3
p.Q110*
c.328C>T
5 papers
NM_000161.3
p.Q110E
c.328C>G
1 paper
NM_000161.3
p.E111E
c.333G>A
3 papers
NM_000161.3
p.Y109*
c.327C>G
3 papers
NM_000161.3
p.Y109*
c.327C>A
5 papers
NM_000161.3
p.T112A
c.334A>G
1 paper
NM_000161.3
p.Y109C
c.326A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."