Varaico: Literature-Extracted Genetic Variants

Gene:INPP5B
Variant:p.R244*

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
Selected Variant
1 paper
NM_005540.3
p.R244*
c.730C>T
Surrounding Variants
1 paper
NM_005540.3
p.T228delFs
c.683_684delTG
1 paper
NM_005540.3
p.T228fs
c.682_683fs
1 paper
NM_005540.3
p.F265_R266insGG
c.793_797ins6
1 paper
NM_005540.3
p.Y272H
c.814T>C
2 papers
NM_005540.3
p.V274A
c.821T>C
1 paper
NM_005540.3
p.Q277R
c.830A>G
1 paper
NM_005540.3
p.R284W
c.850C>T
1 paper
NM_005540.3
p.R284Q
c.851G>A
1 paper
NM_005540.3
p.E205G
c.614A>G
1 paper
NM_005540.3
p.V192V
c.576G>A
1 paper
NM_005540.3
p.G191delFs
c.573delT
1 paper
NM_005540.3
p.L304I
c.910C>A
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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."