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

2 papers

NM_001010855.4

p.D624N

c.1870G>A

Surrounding Variants

1 paper

NM_001010855.4

p.T625P

c.1873A>C

2 papers

NM_001010855.4

p.L610insFs

c.1828_1829insC

1 paper

NM_001010855.4

p.S609fs

c.1825_1826fs

1 paper

NM_001010855.4

p.S609insFs

c.1825_1826insG

1 paper

NM_001010855.4

p.T607A

c.1819A>G

1 paper

NM_001010855.4

p.R604*

c.1810C>T

1 paper

NM_001010855.4

p.P603L

c.1808C>T

1 paper

NM_001010855.4

p.S600G

c.1798A>G

1 paper

NM_001010855.4

p.G585D

c.1754G>A

1 paper

NM_001010855.4

p.R513Q

c.1538G>A

1 paper

NM_001010855.4

p.A498T

c.1492G>A

1 paper

NM_001010855.4

p.P486L

c.1457C>T