Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.L79L

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.L79L
c.235C>T
Surrounding Variants
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.I78delFs
c.233delA
1 paper
NM_000161.3
p.S80G
c.238A>G
9 papers
NM_000161.3
p.S80N
c.239G>A
5 papers
NM_000161.3
p.S77C
c.230C>G
1 paper
NM_000161.3
p.S81A
c.241T>G
7 papers
NM_000161.3
p.S81P
c.241T>C
3 papers
NM_000161.3
p.S77P
c.229T>C
3 papers
NM_000161.3
p.S76delFs
c.228delC
4 papers
NM_000161.3
p.L79_S80del0
c.235_240del6
3 papers
NM_000161.3
p.S77fs
c.229_230fs
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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."