Varaico: Literature-Extracted Genetic Variants

Gene:PCBD1

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
1–12 of 72 variants
8 papers
NM_000281.4
p.E87*
c.259G>T
7 papers
NM_000281.4
p.Q98*
c.292C>T
6 papers
NM_000281.4
p.C82R
c.244T>C
5 papers
NM_000281.4
p.R88Q
c.263G>A
3 papers
NM_000281.4
p.E27*
c.79G>T
3 papers
NM_000281.4
p.T79I
c.236C>T
2 papers
NM_000281.4
p.M1R
c.2T>G
2 papers
NM_000281.4
p.T51S
c.151A>T
2 papers
NM_000281.4
p.E97K
c.289G>A
1 paper
NM_000281.4
p.M1_A2Splc
c.3+1G>C
1 paper
NM_000281.4
p.A2S
c.4G>T
1 paper
NM_000281.4
p.A5T
c.13G>A
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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."