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.M1I

c.3G>T

Surrounding Variants

1 paper

NM_014937.4

p.M1I

c.3G>A

1 paper

NM_014937.4

p.M1I

c.3G>C

1 paper

NM_014937.4

p.E2E

c.6G>A

1 paper

NM_014937.4

p.Q13L

c.38A>T