Varaico: Literature-Extracted Genetic Variants

Gene:PIK3AP1
Variant:p.A136D

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
Selected Variant
1 paper
NM_152309.3
p.A136D
c.407C>A
Surrounding Variants
1 paper
NM_152309.3
p.T125I
c.374C>T
1 paper
NM_152309.3
p.R106W
c.316C>T
1 paper
NM_152309.3
p.V105M
c.313G>A
1 paper
NM_152309.3
p.C103C
c.309C>T
6 papers
NM_152309.3
p.A83S
c.247G>T
1 paper
NM_152309.3
p.Q77H
c.231G>T
1 paper
NM_152309.3
p.Q77H
c.231G>C
1 paper
NM_152309.3
p.A73T
c.217G>A
4 papers
NM_152309.3
p.E21K
c.61G>A
1 paper
NM_152309.3
p.V6V
c.18G>T
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