Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.S81P

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
7 papers
NM_000161.3
p.S81P
c.241T>C
Surrounding Variants
1 paper
NM_000161.3
p.S81A
c.241T>G
4 papers
NM_000161.3
p.L79_S80del0
c.235_240del6
1 paper
NM_000161.3
p.S81L
c.242C>T
2 papers
NM_000161.3
p.S81*
c.242C>A
9 papers
NM_000161.3
p.S80N
c.239G>A
1 paper
NM_000161.3
p.L82_G83insA
c.244_248ins3
1 paper
NM_000161.3
p.S80G
c.238A>G
5 papers
NM_000161.3
p.L82P
c.245T>C
1 paper
NM_000161.3
p.L79R
c.236T>G
16 papers
NM_000161.3
p.L79P
c.236T>C
2 papers
NM_000161.3
p.L82L
c.246G>T
2 papers
NM_000161.3
p.L82del1
c.244_245delCAG
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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."