Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.L231L

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.L231L
c.691T>C
Surrounding Variants
4 papers
NM_000161.3
p.M230I
c.690G>T
2 papers
NM_000161.3
p.M230fs
c.688_689fs
4 papers
NM_000161.3
p.M230I
c.690G>C
5 papers
NM_000161.3
p.M230I
c.690G>A
2 papers
NM_000161.3
p.L231F
c.693G>T
1 paper
NM_000161.3
p.L231fs
c.691_692fs
2 papers
NM_000161.3
p.L231F
c.693G>C
1 paper
NM_000161.3
p.G232fs
c.694_695fs
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.T229insFs
c.686_687insA
1 paper
NM_000161.3
p.V233V
c.699G>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."