Varaico: Literature-Extracted Genetic Variants

Gene:PAK1IP1
Variant:p.A294S

PAK1IP1

42 papers

Pfam Domains

WD40aa 30–68UCSCWD domain, G-beta repeat
WD40aa 74–109UCSCWD domain, G-beta repeat
WD40aa 113–151UCSCWD domain, G-beta repeat
WD40aa 235–275UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

PAK1 interacting protein 1

HGNC Alias Symbols

FLJ20624; hPIP1; PIP1; bA421M1.5; MAK11; WDR84

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017906.3
p.A294S
c.880G>T
Surrounding Variants
1 paper
NM_017906.3
p.L286F
c.858A>C
1 paper
NM_017906.3
p.L286F
c.858A>T
1 paper
NM_017906.3
p.S285A
c.853T>G
1 paper
NM_017906.3
p.P284T
c.850C>A
1 paper
NM_017906.3
p.S312I
c.935G>T
1 paper
NM_017906.3
p.T337fs
c.1009_1010fs
1 paper
NM_017906.3
p.T337_V338delFs
c.1011_1012delAG
1 paper
NM_017906.3
p.R352H
c.1055G>A
1 paper
NM_017906.3
p.L354L
c.1060T>C
1 paper
NM_017906.3
p.T355del1
c.1063_1064delACA
3 papers
NM_017906.3
p.V376I
c.1126G>A
1 paper
NM_017906.3
p.K386N
c.1158G>C
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