Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.K151_V152Splc

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.K151_V152Splc
c.453+5G>C
Surrounding Variants
1 paper
NM_000161.3
p.K151_V152Splc
c.453+5G>A
2 papers
NM_000161.3
p.K151_V152Splc
c.453+6G>T
2 papers
NM_000161.3
p.K151_V152Splc
c.453+3A>T
1 paper
NM_000161.3
p.K151_V152Splc
c.453+2T>G
1 paper
NM_000161.3
p.K151_V152Splc
c.453+1G>T
8 papers
NM_000161.3
p.K151_V152Splc
c.453+1G>C
5 papers
NM_000161.3
p.K151_V152Splc
c.453+1G>A
3 papers
NM_000161.3
p.K151*
c.451A>T
1 paper
NM_000161.3
p.G150E
c.449G>A
3 papers
NM_000161.3
p.P147Q
c.440C>A
3 papers
NM_000161.3
p.L145F
c.435G>T
3 papers
NM_000161.3
p.L145F
c.435G>C
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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."