Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.R249S

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
15 papers
NM_000161.3
p.R249S
c.747G>C
Surrounding Variants
15 papers
NM_000161.3
p.R249S
c.747G>T
3 papers
NM_000161.3
p.R249delFs
c.745delT
4 papers
NM_000161.3
p.R249fs
c.745_746fs
3 papers
NM_000161.3
p.R249G
c.745A>G
7 papers
NM_000161.3
p.*251R
c.751T>C
5 papers
NM_000161.3
p.*251R
c.751T>A
1 paper
NM_000161.3
p.*251S
c.752G>C
1 paper
NM_000161.3
p.L247L
c.741C>A
1 paper
NM_000161.3
p.T246T
c.738T>C
1 paper
NM_000161.3
p.L245ins1
c.734_735insCCT
1 paper
NM_000161.3
p.L245P
c.734T>C
1 paper
NM_000161.3
p.F244fs
c.730_731fs
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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."