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

1–12 of 384 variants

7 papers

NM_001101669.3

p.V594A

c.1781T>C

4 papers

NM_001101669.3

p.R126Q

c.377G>A

4 papers

NM_001101669.3

p.R818delFs

c.2452delT

3 papers

NM_001101669.3

p.D23N

c.67G>A

3 papers

NM_001101669.3

p.V184M

c.550G>A

3 papers

NM_001101669.3

p.I424L

c.1270A>T

3 papers

NM_001101669.3

p.I424L

c.1270A>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

3 papers

NM_001101669.3

p.R818fs

c.2452_2453fs

3 papers

NM_001101669.3

p.R874*

c.2620C>T