Varaico: Literature-Extracted Genetic Variants

PIK3R6

50 papers

RefSeq Summary

Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several re...

Pfam Domains

PI3K_1B_p101aa 5–295UCSCPhosphoinositide 3-kinase gamma adapter protein p101 subunit

PI3K_1B_p101aa 401–477UCSCPhosphoinositide 3-kinase gamma adapter protein p101 subunit

PI3K_1B_p101aa 468–754UCSCPhosphoinositide 3-kinase gamma adapter protein p101 subunit

Gene Aliases

HGNC Name

phosphoinositide-3-kinase regulatory subunit 6

HGNC Previous Symbol

C17orf38

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001010855.4

p.W297Splc

c.889+4C>T

Surrounding Variants

1 paper

NM_001010855.4

p.E294D

c.882G>T

1 paper

NM_001010855.4

p.E294D

c.882G>C

1 paper

NM_001010855.4

p.R344W

c.1030C>T

1 paper

NM_001010855.4

p.D388E

c.1164C>G

1 paper

NM_001010855.4

p.D388E

c.1164C>A

1 paper

NM_001010855.4

p.R399W

c.1195C>T

1 paper

NM_001010855.4

p.D423G

c.1268A>G

2 papers

NM_001010855.4

p.R483H

c.1448G>A

1 paper

NM_001010855.4

p.P486L

c.1457C>T

1 paper

NM_001010855.4

p.A498T

c.1492G>A

1 paper

NM_001010855.4

p.A262V

c.785C>T

1 paper

NM_001010855.4

p.E252G

c.755A>G