Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.D63G

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.D63G
c.188A>G
Surrounding Variants
1 paper
NM_000161.3
p.E62delFs
c.186delC
1 paper
NM_000161.3
p.D63fs
c.187_188fs
1 paper
NM_000161.3
p.D63ins0
c.187_189dupGAT
1 paper
NM_000161.3
p.E62*
c.184G>T
17 papers
NM_000161.3
p.E65*
c.193G>T
1 paper
NM_000161.3
p.E61delFs
c.182delT
1 paper
NM_000161.3
p.E65fs
c.193_194fs
2 papers
NM_000161.3
p.E65delFs
c.193delC
20 papers
NM_000161.3
p.E61*
c.181G>T
1 paper
NM_000161.3
p.E65fs
c.193_194fs
2 papers
NM_000161.3
p.L66L
c.196C>T
1 paper
NM_000161.3
p.S60R
c.180C>A
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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."