Varaico: Literature-Extracted Genetic Variants

Gene:INPP5B
Variant:p.E573G

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
2 papers
NM_005540.3
p.E573G
c.1718A>G
Surrounding Variants
1 paper
NM_005540.3
p.S589P
c.1765T>C
1 paper
NM_005540.3
p.E596insFs
c.1787_1788ins4
1 paper
NM_005540.3
p.C598Y
c.1793G>A
1 paper
NM_005540.3
p.E610G
c.1829A>G
1 paper
NM_005540.3
p.G617R
c.1849G>A
1 paper
NM_005540.3
p.C621*
c.1863T>A
1 paper
NM_005540.3
p.S633delFs
c.1897delA
1 paper
NM_005540.3
p.D651V
c.1952A>T
2 papers
NM_005540.3
p.I558N
c.1673T>A
1 paper
NM_005540.3
p.L660L
c.1980C>G
1 paper
NM_005540.3
p.K550*
c.1648A>T
8 papers
NM_005540.3
p.M665T
c.1994T>C
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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."