Varaico: Literature-Extracted Genetic Variants

Gene:INPP5B
Variant:p.P774L

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.P774L
c.2321C>T
Surrounding Variants
1 paper
NM_005540.3
p.N794I
c.2381A>T
1 paper
NM_005540.3
p.A797S
c.2389G>T
1 paper
NM_005540.3
p.E815V
c.2444A>T
1 paper
NM_005540.3
p.G831G
c.2493C>A
1 paper
NM_005540.3
p.R762delFs
c.2285_2286delTC
1 paper
NM_005540.3
p.P746L
c.2237C>T
1 paper
NM_005540.3
p.P844S
c.2530C>T
1 paper
NM_005540.3
p.R859*
c.2575C>T
6 papers
NM_005540.3
p.D871H
c.2611G>C
2 papers
NM_005540.3
p.L875V
c.2623C>G
1 paper
NM_005540.3
p.T725insFs
c.2174dupC
1 paper
NM_005540.3
p.L723fs
c.2167_2168fs
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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."