Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.E183A

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
2 papers
NM_000161.3
p.E183A
c.548A>C
Surrounding Variants
6 papers
NM_000161.3
p.E183K
c.547G>A
16 papers
NM_000161.3
p.R184C
c.550C>T
32 papers
NM_000161.3
p.R184H
c.551G>A
13 papers
NM_000161.3
p.Q182*
c.544C>T
1 paper
NM_000161.3
p.R184R
c.552C>T
5 papers
NM_000161.3
p.Q182E
c.544C>G
2 papers
NM_000161.3
p.R184R
c.552C>A
1 paper
NM_000161.3
p.L185F
c.553C>T
4 papers
NM_000161.3
p.L185R
c.554T>G
2 papers
NM_000161.3
p.V181G
c.542T>G
1 paper
NM_000161.3
p.L185P
c.554T>C
1 paper
NM_000161.3
p.V181A
c.542T>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."