Varaico: Literature-Extracted Genetic Variants

Gene:PIK3AP1

PIK3AP1

75 papers

Pfam Domains

TIR_3aa 11–141UCSCToll/interleukin-1 receptor domain
DBBaa 180–271UCSCDof, BCAP, and BANK (DBB) motif,
HTH_PIK3AP1aa 603–663UCSCPIK3AP1-like, helix-turn-helix domain

Gene Aliases

HGNC Name

phosphoinositide-3-kinase adaptor protein 1

HGNC Alias Symbol

FLJ35564

Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
6 papers
NM_152309.3
p.A83S
c.247G>T
4 papers
NM_152309.3
p.E21K
c.61G>A
4 papers
NM_152309.3
p.V198G
c.593T>G
3 papers
NM_152309.3
p.G313R
c.937G>C
3 papers
NM_152309.3
p.G313R
c.937G>A
3 papers
NM_152309.3
p.E551K
c.1651G>A
2 papers
NM_152309.3
p.T171M
c.512C>T
2 papers
NM_152309.3
p.E380V
c.1139A>T
2 papers
NM_152309.3
p.K638R
c.1913A>G
1 paper
NM_152309.3
p.V6V
c.18G>T
1 paper
NM_152309.3
p.A73T
c.217G>A
1 paper
NM_152309.3
p.Q77H
c.231G>T
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