Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.D119N

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.D119N
c.355G>A
Surrounding Variants
8 papers
NM_000161.3
p.L117delFs
c.351delT
1 paper
NM_000161.3
p.V116_N118del3
c.346_353del9
1 paper
NM_000161.3
p.N118I
c.353A>T
4 papers
NM_000161.3
p.A120S
c.358G>T
1 paper
NM_000161.3
p.N118fs
c.352_353fs
1 paper
NM_000161.3
p.A120V
c.359C>T
2 papers
NM_000161.3
p.L117L
c.351A>G
1 paper
NM_000161.3
p.L117fs
c.349_350fs
7 papers
NM_000161.3
p.L117R
c.350T>G
2 papers
NM_000161.3
p.I121insFs
c.362dupT
2 papers
NM_000161.3
p.F122fs
c.364_365fs
1 paper
NM_000161.3
p.V116L
c.346G>C
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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."