Varaico: Literature-Extracted Genetic Variants

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

4 papers

NM_001101669.3

p.R818delFs

c.2452delT

Surrounding Variants

1 paper

NM_001101669.3

p.R818*

c.2452A>T

3 papers

NM_001101669.3

p.R818fs

c.2452_2453fs

2 papers

NM_001101669.3

p.R818fs

c.2452_2453fs

1 paper

NM_001101669.3

p.S815insFs

c.2444_2445insA

2 papers

NM_001101669.3

p.S815Y

c.2444C>A

1 paper

NM_001101669.3

p.Q814K

c.2440C>A

1 paper

NM_001101669.3

p.E822D

c.2466A>T

1 paper

NM_001101669.3

p.E822D

c.2466A>C

1 paper

NM_001101669.3

p.W825*

c.2474G>A

1 paper

NM_001101669.3

p.W825*

c.2475G>A

1 paper

NM_001101669.3

p.Q811E

c.2431C>G

1 paper

NM_001101669.3

p.L809V

c.2425C>G