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

2 papers

NM_014937.4

p.S258N

c.773G>A

Surrounding Variants

1 paper

NM_014937.4

p.K256N

c.768A>C

1 paper

NM_014937.4

p.K256N

c.768A>T

1 paper

NM_014937.4

p.E260G

c.779A>G

1 paper

NM_014937.4

p.P263insFs

c.788dupC

1 paper

NM_014937.4

p.S266F

c.797C>T

1 paper

NM_014937.4

p.V269_D270del2

c.805_809del6

1 paper

NM_014937.4

p.V269_D270delFs

c.807_808delAG

1 paper

NM_014937.4

p.V239fs

c.715_716fs

1 paper

NM_014937.4

p.V239delFs

c.715delG

2 papers

NM_014937.4

p.R284*

c.850C>T

1 paper

NM_014937.4

p.G290E

c.869G>A

1 paper

NM_014937.4

p.M291T

c.872T>C