Varaico: Literature-Extracted Genetic Variants

Gene:PCBD1
Variant:p.M1R

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
2 papers
NM_000281.4
p.M1R
c.2T>G
Surrounding Variants
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
1 paper
NM_000281.4
p.A5A
c.15A>T
1 paper
NM_000281.4
p.L8L
c.22C>T
1 paper
NM_000281.4
p.S9N
c.26G>A
1 paper
NM_000281.4
p.E11Q
c.31G>C
1 paper
NM_000281.4
p.E11delFs
c.33delC
1 paper
NM_000281.4
p.D14E
c.42C>A
1 paper
NM_000281.4
p.Q15*
c.43C>T
1 paper
NM_000281.4
p.L16fs
c.46_47fs
1 paper
NM_000281.4
p.L16L
c.46C>T
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