Varaico: Literature-Extracted Genetic Variants

Gene:PCBD1
Variant:p.C82delFs

PCBD1

60 papers

RefSeq Summary

This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically dis...

Pfam Domains

Pterin_4aaa 6–99UCSCPterin 4 alpha carbinolamine dehydratase

Gene Aliases

HGNC Name

pterin-4 alpha-carbinolamine dehydratase 1

HGNC Previous Symbol

DCOH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000281.4
p.C82delFs
c.245delC
Surrounding Variants
1 paper
NM_000281.4
p.C82S
c.245G>C
1 paper
NM_000281.4
p.A83T
c.247G>A
6 papers
NM_000281.4
p.C82R
c.244T>C
1 paper
NM_000281.4
p.C82S
c.244T>A
1 paper
NM_000281.4
p.E81E
c.243G>A
1 paper
NM_000281.4
p.H80delFs
c.239_240delAT
1 paper
NM_000281.4
p.H80fs
c.238_239fs
1 paper
NM_000281.4
p.G84insFs
c.251_252ins7
1 paper
NM_000281.4
p.G84fs
c.250_251fs
1 paper
NM_000281.4
p.L85insFs
c.253_254ins5
1 paper
NM_000281.4
p.L85insFs
c.254_255insG
1 paper
NM_000281.4
p.L85fs
c.253_254fs
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