Varaico: Literature-Extracted Genetic Variants

Gene:PCBD1
Variant:p.E27*

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
3 papers
NM_000281.4
p.E27*
c.79G>T
Surrounding Variants
1 paper
NM_000281.4
p.P18S
c.52C>T
1 paper
NM_000281.4
p.Q37*
c.109C>T
1 paper
NM_000281.4
p.L16_L17insFs
c.48_49insC
1 paper
NM_000281.4
p.L16delFs
c.46delG
1 paper
NM_000281.4
p.Q37fs
c.109_110fs
1 paper
NM_000281.4
p.F38L
c.112T>C
1 paper
NM_000281.4
p.Q37delFs
c.111delC
1 paper
NM_000281.4
p.L16fs
c.46_47fs
1 paper
NM_000281.4
p.L16L
c.46C>T
1 paper
NM_000281.4
p.F38L
c.114T>G
1 paper
NM_000281.4
p.F38L
c.114T>A
1 paper
NM_000281.4
p.Q15*
c.43C>T
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