Varaico: Literature-Extracted Genetic Variants

Gene:PCBD1
Variant:p.*105Q

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.*105Q
c.313T>C
Surrounding Variants
1 paper
NM_000281.4
p.M103I
c.309G>A
1 paper
NM_000281.4
p.S102S
c.306C>G
1 paper
NM_000281.4
p.Q98L
c.293A>T
7 papers
NM_000281.4
p.Q98*
c.292C>T
2 papers
NM_000281.4
p.E97K
c.289G>A
1 paper
NM_000281.4
p.N91delFs
c.272delT
1 paper
NM_000281.4
p.N91fs
c.271_272fs
5 papers
NM_000281.4
p.R88Q
c.263G>A
1 paper
NM_000281.4
p.R88W
c.262C>T
8 papers
NM_000281.4
p.E87*
c.259G>T
1 paper
NM_000281.4
p.L85fs
c.253_254fs
1 paper
NM_000281.4
p.L85insFs
c.254_255insG
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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."