Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.V132fs

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.V132fs
c.394_395fs
Surrounding Variants
1 paper
NM_000161.3
p.I131delFs
c.393delA
1 paper
NM_000161.3
p.V132fs
c.394_395fs
1 paper
NM_000161.3
p.V132V
c.396G>A
1 paper
NM_000161.3
p.V132delFs
c.395_396delCA
5 papers
NM_000161.3
p.D134N
c.400G>A
3 papers
NM_000161.3
p.D134fs
c.400_401fs
1 paper
NM_000161.3
p.M129I
c.387G>A
21 papers
NM_000161.3
p.D134V
c.401A>T
4 papers
NM_000161.3
p.D134G
c.401A>G
1 paper
NM_000161.3
p.D134A
c.401A>C
3 papers
NM_000161.3
p.D134delFs
c.400delC
2 papers
NM_000161.3
p.M129V
c.385A>G
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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."