Varaico: Literature-Extracted Genetic Variants

Gene:PCBD2

PCBD2

7 papers

Pfam Domains

Pterin_4aaa 33–126UCSCPterin 4 alpha carbinolamine dehydratase

Gene Aliases

HGNC Name

pterin-4 alpha-carbinolamine dehydratase 2

HGNC Alias Symbols

DCOHM; DCOH2

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_032151.5
p.G9R
c.25G>A
1 paper
NM_032151.5
p.G9R
c.25G>C
1 paper
NM_032151.5
p.L14F
c.42G>C
1 paper
NM_032151.5
p.L14F
c.42G>T
1 paper
NM_032151.5
p.S66del1
c.196_197delTCC
1 paper
NM_032151.5
p.A84E
c.251C>A
1 paper
NM_032151.5
p.D108N
c.322G>A
1 paper
NM_032151.5
p.T113I
c.338C>T
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