Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.P199L

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
6 papers
NM_000161.3
p.P199L
c.596C>T
Surrounding Variants
8 papers
NM_000161.3
p.P199S
c.595C>T
9 papers
NM_000161.3
p.P199A
c.595C>G
1 paper
NM_000161.3
p.P199delFs
c.597delA
6 papers
NM_000161.3
p.R198Q
c.593G>A
5 papers
NM_000161.3
p.R198W
c.592C>T
1 paper
NM_000161.3
p.R198G
c.592C>G
1 paper
NM_000161.3
p.G201*
c.601G>T
6 papers
NM_000161.3
p.G201R
c.601G>C
6 papers
NM_000161.3
p.G201R
c.601G>A
1 paper
NM_000161.3
p.G201A
c.602G>C
28 papers
NM_000161.3
p.G201E
c.602G>A
7 papers
NM_000161.3
p.V202I
c.604G>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."