Varaico: Literature-Extracted Genetic Variants

Gene:PCBD1
Variant:p.K72_V73Splc

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.K72_V73Splc
c.216+1G>A
Surrounding Variants
1 paper
NM_000281.4
p.N71_K72del1
c.213_215delTTG
1 paper
NM_000281.4
p.Y70_N71delFs
c.210_211delTG
1 paper
NM_000281.4
p.Y70fs
c.208_209fs
1 paper
NM_000281.4
p.H63L
c.188A>T
1 paper
NM_000281.4
p.H62Y
c.184C>T
1 paper
NM_000281.4
p.H62N
c.184C>A
1 paper
NM_000281.4
p.D61delFs
c.182delT
1 paper
NM_000281.4
p.A57del1
c.169_171delAGC
1 paper
NM_000281.4
p.E58K
c.172G>A
1 paper
NM_000281.4
p.Q56*
c.166C>T
1 paper
NM_000281.4
p.F49_R52delFs
c.147_156del10
1 paper
NM_000281.4
p.R52fs
c.154_155fs
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