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

3 papers

NM_014937.4

p.S1058P

c.3172T>C

Surrounding Variants

3 papers

NM_014937.4

p.P1057T

c.3169C>A

1 paper

NM_014937.4

p.P1059L

c.3176C>T

1 paper

NM_014937.4

p.V1055L

c.3163G>C

1 paper

NM_014937.4

p.V1055L

c.3163G>T

1 paper

NM_014937.4

p.E1050D

c.3150G>C

1 paper

NM_014937.4

p.E1050D

c.3150G>T

1 paper

NM_014937.4

p.V1034A

c.3101T>C

1 paper

NM_014937.4

p.H1091H

c.3273T>C

1 paper

NM_014937.4

p.Q1024delFs

c.3070_3071delCA

1 paper

NM_014937.4

p.G1022D

c.3065G>A

1 paper

NM_014937.4

p.K1102R

c.3305A>G

1 paper

NM_014937.4

p.S1009P

c.3025T>C