Varaico: Literature-Extracted Genetic Variants

Gene:PIP5KL1
Variant:p.S236R

PIP5KL1

21 papers

RefSeq Summary

PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK acti...

Pfam Domains

PIP5Kaa 126–392UCSCPhosphatidylinositol-4-phosphate 5-Kinase

Gene Aliases

HGNC Name

phosphatidylinositol-4-phosphate 5-kinase like 1

HGNC Alias Symbols

bA203J24.5; MGC46424; PIPKH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135219.2
p.S236R
c.708C>G
Surrounding Variants
1 paper
NM_001135219.2
p.S236R
c.708C>A
1 paper
NM_001135219.2
p.S236R
c.706A>C
1 paper
NM_001135219.2
p.E274Q
c.820G>C
1 paper
NM_001135219.2
p.G295V
c.884G>T
1 paper
NM_001135219.2
p.S190R
c.568A>C
1 paper
NM_001135219.2
p.P178R
c.533C>G
1 paper
NM_001135219.2
p.Y170*
c.510C>G
1 paper
NM_001135219.2
p.Y170*
c.510C>A
1 paper
NM_001135219.2
p.S145F
c.434C>T
1 paper
NM_001135219.2
p.S145F
c.434C>T
1 paper
NM_001135219.2
p.G127S
c.379G>A
1 paper
NM_001135219.2
p.E117del1
c.349_350delCTC
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