Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.K54N

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.K54N
c.162G>C
Surrounding Variants
1 paper
NM_000161.3
p.K54N
c.162G>T
1 paper
NM_000161.3
p.G55S
c.163G>A
1 paper
NM_000161.3
p.G55D
c.164G>A
2 papers
NM_000161.3
p.K54*
c.160A>T
4 papers
NM_000161.3
p.W53delFs
c.159delC
1 paper
NM_000161.3
p.W53fs
c.157_158fs
6 papers
NM_000161.3
p.W53*
c.159G>A
8 papers
NM_000161.3
p.E56*
c.166G>T
12 papers
NM_000161.3
p.W53*
c.158G>A
9 papers
NM_000161.3
p.E56K
c.166G>A
1 paper
NM_000161.3
p.G52G
c.156C>A
1 paper
NM_000161.3
p.R57L
c.170G>T
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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."