Varaico: Literature-Extracted Genetic Variants

Gene:PPWD1
Variant:p.K453E

PPWD1

34 papers

Pfam Domains

WD40aa 54–87UCSCWD domain, G-beta repeat
WD40aa 84–117UCSCWD domain, G-beta repeat
WD40aa 93–131UCSCWD domain, G-beta repeat
WD40aa 243–278UCSCWD domain, G-beta repeat
WD40aa 273–308UCSCWD domain, G-beta repeat
Pro_isomeraseaa 463–615UCSCCyclophilin type peptidyl-prolyl cis-trans isomerase/CLD

Gene Aliases

HGNC Name

peptidylprolyl isomerase domain and WD repeat containing 1

HGNC Alias Symbol

KIAA0073

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015342.4
p.K453E
c.1357A>G
Surrounding Variants
1 paper
NM_015342.4
p.E511Splc
c.1532+1G>A
1 paper
NM_015342.4
p.H531N
c.1591C>A
1 paper
NM_015342.4
p.H567Y
c.1699C>T
1 paper
NM_015342.4
p.A410P
c.1228G>C
1 paper
NM_015342.4
p.R399fs
c.1195_1196fs
1 paper
NM_015342.4
p.R399delFs
c.1195_1196delAG
1 paper
NM_015342.4
p.D603H
c.1807G>C
1 paper
NM_015342.4
p.R611Q
c.1832G>A
1 paper
NM_015342.4
p.V625F
c.1873G>T
1 paper
NM_015342.4
p.R342*
c.1024C>T
1 paper
NM_015342.4
p.G341G
c.1023C>T
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