Varaico: Literature-Extracted Genetic Variants

Gene:INPP5B
Variant:p.A6T

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.A6T
c.16G>A
Surrounding Variants
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
1 paper
NM_005540.3
p.G37E
c.110G>A
1 paper
NM_005540.3
p.V39L
c.115G>T
1 paper
NM_005540.3
p.R40C
c.118C>T
1 paper
NM_005540.3
p.R42C
c.124C>T
1 paper
NM_005540.3
p.G46S
c.136G>A
1 paper
NM_005540.3
p.A51V
c.152C>T
1 paper
NM_005540.3
p.A51Splc
c.153-59A>G
1 paper
NM_005540.3
p.A51V
c.152C>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."