Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.N70delFs

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
6 papers
NM_000161.3
p.N70delFs
c.209delT
Surrounding Variants
2 papers
NM_000161.3
p.N70K
c.210C>G
1 paper
NM_000161.3
p.N70fs
c.208_209fs
2 papers
NM_000161.3
p.N70K
c.210C>A
1 paper
NM_000161.3
p.L71L
c.211C>T
1 paper
NM_000161.3
p.L71R
c.212T>G
8 papers
NM_000161.3
p.L71Q
c.212T>A
5 papers
NM_000161.3
p.N70fs
c.208_209fs
2 papers
NM_000161.3
p.L71fs
c.211_212fs
7 papers
NM_000161.3
p.L71delFs
c.212delA
1 paper
NM_000161.3
p.A72S
c.214G>T
14 papers
NM_000161.3
p.P69L
c.206C>T
1 paper
NM_000161.3
p.P69S
c.205C>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."