Varaico: Literature-Extracted Genetic Variants

Gene:INPP5B

INPP5B

102 papers

RefSeq Summary

This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein ...

Gene Aliases

HGNC Name

inositol polyphosphate-5-phosphatase B

HGNC Previous Names

inositol polyphosphate-5-phosphatase, 75kD; inositol polyphosphate-5-phosphatase, 75kDa

Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
8 papers
NM_005540.3
p.M665T
c.1994T>C
6 papers
NM_005540.3
p.D871H
c.2611G>C
2 papers
NM_005540.3
p.A6T
c.16G>A
2 papers
NM_005540.3
p.V274A
c.821T>C
2 papers
NM_005540.3
p.G490A
c.1469G>C
2 papers
NM_005540.3
p.I558N
c.1673T>A
2 papers
NM_005540.3
p.E573G
c.1718A>G
2 papers
NM_005540.3
p.L875V
c.2623C>G
1 paper
NM_005540.3
p.C17C
c.51C>T
1 paper
NM_005540.3
p.I19_A20Splc
c.57+2T>C
1 paper
NM_005540.3
p.R31R
c.93G>A
1 paper
NM_005540.3
p.R34C
c.100C>T
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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."