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.N457D

c.1369A>G

Surrounding Variants

1 paper

NM_014937.4

p.C458S

c.1372T>A

1 paper

NM_014937.4

p.C458S

c.1373G>C

1 paper

NM_014937.4

p.R455C

c.1363C>T

1 paper

NM_014937.4

p.D460V

c.1379A>T

3 papers

NM_014937.4

p.I453V

c.1357A>G

1 paper

NM_014937.4

p.C448R

c.1342T>C

1 paper

NM_014937.4

p.N466S

c.1397A>G

1 paper

NM_014937.4

p.A473A

c.1419G>A

1 paper

NM_014937.4

p.E490D

c.1470A>C

1 paper

NM_014937.4

p.E490D

c.1470A>T

1 paper

NM_014937.4

p.I503M

c.1509A>G

1 paper

NM_014937.4

p.A521T

c.1561G>A