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

1–12 of 43 variants

2 papers

NM_001010855.4

p.R45Q

c.134G>A

2 papers

NM_001010855.4

p.R483H

c.1448G>A

2 papers

NM_001010855.4

p.L610insFs

c.1828_1829insC

2 papers

NM_001010855.4

p.D624N

c.1870G>A

1 paper

NM_001010855.4

p.D5H

c.13G>C

1 paper

NM_001010855.4

p.L21H

c.62T>A

1 paper

NM_001010855.4

p.R59K

c.176G>A

1 paper

NM_001010855.4

p.K63_A64Splc

c.189+32G>T

1 paper

NM_001010855.4

p.L133V

c.397C>G

1 paper

NM_001010855.4

p.T145M

c.434C>T

1 paper

NM_001010855.4

p.R190H

c.569G>A

1 paper

NM_001010855.4

p.A199fs

c.595_596fs