Varaico: Literature-Extracted Genetic Variants

Gene:PIK3AP1
Variant:p.G579R

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.G579R
c.1735G>C
Surrounding Variants
1 paper
NM_152309.3
p.G579R
c.1735G>A
1 paper
NM_152309.3
p.P581S
c.1741C>T
1 paper
NM_152309.3
p.P596T
c.1786C>A
1 paper
NM_152309.3
p.T602T
c.1806G>A
1 paper
NM_152309.3
p.R606W
c.1816C>T
1 paper
NM_152309.3
p.F629I
c.1885T>A
2 papers
NM_152309.3
p.K638R
c.1913A>G
1 paper
NM_152309.3
p.R639Q
c.1916G>A
1 paper
NM_152309.3
p.Q647_E648Splc
c.1941+2T>A
1 paper
NM_152309.3
p.G579R
c.1735G>A
1 paper
NM_152309.3
p.S572Y
c.1715C>A
1 paper
NM_152309.3
p.E564Q
c.1690G>C
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