Varaico: Literature-Extracted Genetic Variants

Gene:PPWD1
Variant:p.R16L

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.R16L
c.47G>T
Surrounding Variants
1 paper
NM_015342.4
p.R14K
c.41G>A
1 paper
NM_015342.4
p.E23insFs
c.67_68insA
1 paper
NM_015342.4
p.E23fs
c.67_68fs
1 paper
NM_015342.4
p.T25I
c.74C>T
1 paper
NM_015342.4
p.E29K
c.85G>A
1 paper
NM_015342.4
p.M1V
c.1A>G
1 paper
NM_015342.4
p.P55S
c.163C>T
1 paper
NM_015342.4
p.L67_E68insA
c.199_203ins3
1 paper
NM_015342.4
p.S81C
c.242C>G
1 paper
NM_015342.4
p.R85C
c.253C>T
1 paper
NM_015342.4
p.G111E
c.332G>A
1 paper
NM_015342.4
p.G122R
c.364G>A
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