Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.R235G

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
7 papers
NM_000161.3
p.R235G
c.703C>G
Surrounding Variants
5 papers
NM_000161.3
p.R235W
c.703C>T
1 paper
NM_000161.3
p.R235Q
c.704G>A
2 papers
NM_000161.3
p.V233_F234insFs
c.699_700dupGT
15 papers
NM_000161.3
p.F234S
c.701T>C
4 papers
NM_000161.3
p.E236*
c.706G>T
1 paper
NM_000161.3
p.E236fs
c.706_707fs
2 papers
NM_000161.3
p.F234fs
c.700_701fs
1 paper
NM_000161.3
p.V233V
c.699G>A
2 papers
NM_000161.3
p.E236delFs
c.706delC
3 papers
NM_000161.3
p.G232V
c.695G>T
3 papers
NM_000161.3
p.G232D
c.695G>A
1 paper
NM_000161.3
p.G232fs
c.694_695fs
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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."