Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.T209Splc

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
4 papers
NM_000161.3
p.T209Splc
c.626+2T>G
Surrounding Variants
1 paper
NM_000161.3
p.T209Splc
c.626+2T>A
3 papers
NM_000161.3
p.T209Splc
c.626+1G>T
8 papers
NM_000161.3
p.T209Splc
c.626+1G>C
15 papers
NM_000161.3
p.T209Splc
c.626+1G>A
4 papers
NM_000161.3
p.T209I
c.626C>T
3 papers
NM_000161.3
p.T209Splc
c.626+5G>A
2 papers
NM_000161.3
p.T209P
c.625A>C
4 papers
NM_000161.3
p.A208E
c.623C>A
1 paper
NM_000161.3
p.E207fs
c.619_620fs
1 paper
NM_000161.3
p.V206fs
c.616_617fs
1 paper
NM_000161.3
p.V204_V206del0
c.612_617del6
7 papers
NM_000161.3
p.V206A
c.617T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."