Varaico: Literature-Extracted Genetic Variants

INPP5F

81 papers

RefSeq Summary

The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate ...

Pfam Domains

Syja_Naa 49–415UCSCSacI homology domain

hSac2aa 590–697UCSCInositol phosphatase

Gene Aliases

HGNC Name

inositol polyphosphate-5-phosphatase F

HGNC Alias Symbols

SAC2; KIAA0966; hSac2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014937.4

p.S914R

c.2740A>C

Surrounding Variants

1 paper

NM_014937.4

p.S914R

c.2742C>A

1 paper

NM_014937.4

p.S914R

c.2742C>G

1 paper

NM_014937.4

p.S927G

c.2779A>G

1 paper

NM_014937.4

p.D945N

c.2833G>A

1 paper

NM_014937.4

p.A876V

c.2627C>T

1 paper

NM_014937.4

p.Q982R

c.2945A>G

1 paper

NM_014937.4

p.E832G

c.2495A>G

2 papers

NM_014937.4

p.N997D

c.2989A>G

1 paper

NM_014937.4

p.S1009P

c.3025T>C

1 paper

NM_014937.4

p.T807_K808del2

c.2419_2423del6

1 paper

NM_014937.4

p.G1022D

c.3065G>A

1 paper

NM_014937.4

p.Q1024delFs

c.3070_3071delCA