Varaico: Literature-Extracted Genetic Variants

Gene:PIP5KL1
Variant:p.H53Y

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.H53Y
c.157C>T
Surrounding Variants
1 paper
NM_001135219.2
p.E45D
c.135G>T
1 paper
NM_001135219.2
p.E45D
c.135G>C
1 paper
NM_001135219.2
p.W32G
c.94T>G
1 paper
NM_001135219.2
p.G29R
c.85G>A
1 paper
NM_001135219.2
p.P78L
c.233C>T
1 paper
NM_001135219.2
p.E117del1
c.349_350delCTC
1 paper
NM_001135219.2
p.G127S
c.379G>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.Y170*
c.510C>G
1 paper
NM_001135219.2
p.Y170*
c.510C>A
1 paper
NM_001135219.2
p.P178R
c.533C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."