Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.A44A

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
4 papers
NM_000161.3
p.A44A
c.132C>T
Surrounding Variants
1 paper
NM_000161.3
p.A44fs
c.130_131fs
1 paper
NM_000161.3
p.E43_A44insFs
c.127_130dup4
1 paper
NM_000161.3
p.E37_A44ins2
c.109_132dup24
1 paper
NM_000161.3
p.K45_S46insGGC
c.133_137ins9
1 paper
NM_000161.3
p.S46fs
c.136_137fs
1 paper
NM_000161.3
p.P42insFs
c.126dupC
1 paper
NM_000161.3
p.S46delFs
c.136delT
1 paper
NM_000161.3
p.E43fs
c.127_128fs
1 paper
NM_000161.3
p.P42L
c.125C>T
1 paper
NM_000161.3
p.Q48fs
c.142_143fs
10 papers
NM_000161.3
p.Q48*
c.142C>T
1 paper
NM_000161.3
p.Q48K
c.142C>A
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