Varaico: Literature-Extracted Genetic Variants

Gene:INPP4B
Variant:p.S143N

INPP4B

255 papers

RefSeq Summary

INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the in...

Pfam Domains

INPP4A_C2aa 400–611UCSCINPP4A four helix bundle domain

Gene Aliases

HGNC Name

inositol polyphosphate-4-phosphatase type II B

HGNC Previous Names

inositol polyphosphate-4-phosphatase, type II, 105kD; inositol polyphosphate-4-phosphatase, type II, 105kDa

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001101669.3
p.S143N
c.428G>A
Surrounding Variants
1 paper
NM_001101669.3
p.G146R
c.436G>C
1 paper
NM_001101669.3
p.G146S
c.436G>A
1 paper
NM_001101669.3
p.G153insFs
c.458_459insG
1 paper
NM_001101669.3
p.E154*
c.460G>T
1 paper
NM_001101669.3
p.K159*
c.475A>T
1 paper
NM_001101669.3
p.E160E
c.480G>A
1 paper
NM_001101669.3
p.Q161Q
c.483A>G
1 paper
NM_001101669.3
p.G141_R142Splc
c.424-94C>T
1 paper
NM_001101669.3
p.G141_R142Splc
c.424-196G>T
1 paper
NM_001101669.3
p.G141_R142Splc
c.423+106C>A
1 paper
NM_001101669.3
p.G141_R142Splc
c.423+87G>A
1 paper
NM_001101669.3
p.G141_R142Splc
c.423+2T>C
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."