Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.F104L

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.F104L
c.310T>C
Surrounding Variants
8 papers
NM_000161.3
p.Q103delFs
c.309delC
7 papers
NM_000161.3
p.Q103H
c.309G>T
1 paper
NM_000161.3
p.Q103fs
c.307_308fs
5 papers
NM_000161.3
p.Q103H
c.309G>C
7 papers
NM_000161.3
p.F104L
c.312C>G
7 papers
NM_000161.3
p.F104L
c.312C>A
4 papers
NM_000161.3
p.Q103P
c.308A>C
1 paper
NM_000161.3
p.F105L
c.313T>C
1 paper
NM_000161.3
p.A101_M102del2
c.301_305del6
1 paper
NM_000161.3
p.F105C
c.314T>G
1 paper
NM_000161.3
p.M102fs
c.304_305fs
8 papers
NM_000161.3
p.M102R
c.305T>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."