Varaico: Literature-Extracted Genetic Variants

Gene:INPP4B
Variant:p.E574E

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.E574E
c.1722G>A
Surrounding Variants
1 paper
NM_001101669.3
p.L583V
c.1747C>G
1 paper
NM_001101669.3
p.L587M
c.1759C>A
2 papers
NM_001101669.3
p.L587delFs
c.1760delA
2 papers
NM_001101669.3
p.K588N
c.1764G>T
2 papers
NM_001101669.3
p.K588N
c.1764G>C
1 paper
NM_001101669.3
p.C590Y
c.1769G>A
1 paper
NM_001101669.3
p.E593*
c.1777G>T
1 paper
NM_001101669.3
p.E593Q
c.1777G>C
7 papers
NM_001101669.3
p.V594A
c.1781T>C
1 paper
NM_001101669.3
p.K599M
c.1796A>T
1 paper
NM_001101669.3
p.T603P
c.1807A>C
1 paper
NM_001101669.3
p.V605L
c.1813G>T
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