Varaico: Literature-Extracted Genetic Variants

Gene:INPP4B
Variant:p.P501L

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.P501L
c.1502C>T
Surrounding Variants
1 paper
NM_001101669.3
p.Q498H
c.1494A>T
1 paper
NM_001101669.3
p.Q498H
c.1494A>C
1 paper
NM_001101669.3
p.T492S
c.1474A>T
1 paper
NM_001101669.3
p.H512P
c.1535A>C
1 paper
NM_001101669.3
p.E518K
c.1552G>A
1 paper
NM_001101669.3
p.E520Q
c.1558G>C
1 paper
NM_001101669.3
p.I481N
c.1442T>A
1 paper
NM_001101669.3
p.W521*
c.1562G>A
1 paper
NM_001101669.3
p.W521*
c.1563G>A
1 paper
NM_001101669.3
p.G479*
c.1435G>T
1 paper
NM_001101669.3
p.P478A
c.1432C>G
1 paper
NM_001101669.3
p.T475T
c.1425T>A
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