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

1–12 of 86 variants

3 papers

NM_014937.4

p.I453V

c.1357A>G

3 papers

NM_014937.4

p.P1057T

c.3169C>A

3 papers

NM_014937.4

p.S1058P

c.3172T>C

2 papers

NM_014937.4

p.S258N

c.773G>A

2 papers

NM_014937.4

p.R284*

c.850C>T

2 papers

NM_014937.4

p.I387V

c.1159A>G

2 papers

NM_014937.4

p.L741F

c.2223A>T

2 papers

NM_014937.4

p.N997D

c.2989A>G

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.M1I

c.3G>T

1 paper

NM_014937.4

p.E2E

c.6G>A