Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.M1_E2insFs

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
10 papers
NM_000161.3
p.M1_E2insFs
c.3_4insGG
Surrounding Variants
7 papers
NM_000161.3
p.E2G
c.5A>G
1 paper
NM_000161.3
p.E2insFs
c.5_6insT
5 papers
NM_000161.3
p.E2*
c.4G>T
2 papers
NM_000161.3
p.E2_K3insT
c.4_8ins3
1 paper
NM_000161.3
p.E2K
c.4G>A
1 paper
NM_000161.3
p.M1del1
c.1_3delCAT
5 papers
NM_000161.3
p.M1I
c.3G>T
15 papers
NM_000161.3
p.M1_E2insFs
c.3_4insT
1 paper
NM_000161.3
p.M1_E2insFs
c.3_4insTT
1 paper
NM_000161.3
p.M1Fs
c.3delinsTGTGAGFs
8 papers
NM_000161.3
p.M1I
c.3G>C
5 papers
NM_000161.3
p.M1I
c.3G>A
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