Varaico: Literature-Extracted Genetic Variants

Gene:PDAP1
Variant:p.K121Q

PDAP1

110 papers

RefSeq Summary

The protein encoded by this gene is a phosphoprotein that may upregulate the PDGFA-stimulated growth of fibroblasts and also downregulate the mitogenicity of PDGFB. The encoded protein in rodents has ...

Pfam Domains

PP28aa 85–163UCSCCasein kinase substrate phosphoprotein PP28

Gene Aliases

HGNC Name

PDGFA associated protein 1

HGNC Alias Symbols

PAP1; PAP; HASPP28

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014891.7
p.K121Q
c.361A>C
Surrounding Variants
1 paper
NM_014891.7
p.A120G
c.359C>G
2 papers
NM_014891.7
p.R123H
c.368G>A
1 paper
NM_014891.7
p.Q118R
c.353A>G
1 paper
NM_014891.7
p.Y124H
c.370T>C
1 paper
NM_014891.7
p.M125K
c.374T>A
2 papers
NM_014891.7
p.E116V
c.347A>T
1 paper
NM_014891.7
p.L129L
c.385T>C
1 paper
NM_014891.7
p.R112Splc
c.336-2A>G
1 paper
NM_014891.7
p.A141V
c.422C>T
1 paper
NM_014891.7
p.I146_Q149del4
c.436_446del12
1 paper
NM_014891.7
p.A154V
c.461C>T
2 papers
NM_014891.7
p.K157Q
c.469A>C
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