Varaico: Literature-Extracted Genetic Variants

Gene:INPP5B
Variant:p.D468G

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.D468G
c.1403A>G
Surrounding Variants
1 paper
NM_005540.3
p.K461delFs
c.1383delT
1 paper
NM_005540.3
p.D476A
c.1427A>C
1 paper
NM_005540.3
p.E453K
c.1357G>A
1 paper
NM_005540.3
p.D447G
c.1340A>G
2 papers
NM_005540.3
p.G490A
c.1469G>C
1 paper
NM_005540.3
p.L434F
c.1300C>T
1 paper
NM_005540.3
p.D417Y
c.1249G>T
1 paper
NM_005540.3
p.A403_H404insT
c.1207_1211ins3
1 paper
NM_005540.3
p.A384_I385insFs
c.1152_1153insA
1 paper
NM_005540.3
p.R343R
c.1027C>A
1 paper
NM_005540.3
p.C523Y
c.1568G>A
1 paper
NM_005540.3
p.D524A
c.1571A>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."