Varaico: Literature-Extracted Genetic Variants

Gene:INPP4B
Variant:p.T454R

INPP4B

255 papers

RefSeq Summary

INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the in...

Pfam Domains

INPP4A_C2aa 400–611UCSCINPP4A four helix bundle domain

Gene Aliases

HGNC Name

inositol polyphosphate-4-phosphatase type II B

HGNC Previous Names

inositol polyphosphate-4-phosphatase, type II, 105kD; inositol polyphosphate-4-phosphatase, type II, 105kDa

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001101669.3
p.T454R
c.1361C>G
Surrounding Variants
2 papers
NM_001101669.3
p.E455Q
c.1363G>C
1 paper
NM_001101669.3
p.V458L
c.1372G>T
1 paper
NM_001101669.3
p.V458_H459insG
c.1372_1376ins3
1 paper
NM_001101669.3
p.V458L
c.1372G>C
3 papers
NM_001101669.3
p.F461L
c.1381T>C
3 papers
NM_001101669.3
p.F461L
c.1383C>G
3 papers
NM_001101669.3
p.F461L
c.1383C>A
1 paper
NM_001101669.3
p.K462E
c.1384A>G
2 papers
NM_001101669.3
p.Q464E
c.1390C>G
1 paper
NM_001101669.3
p.R467W
c.1399A>T
1 paper
NM_001101669.3
p.R467K
c.1400G>A
1 paper
NM_001101669.3
p.T475T
c.1425T>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."