Varaico: Literature-Extracted Genetic Variants

PIK3R1

1,646 papers

RefSeq Summary

Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 5...

Pfam Domains

RhoGAPaa 129–277UCSCRhoGAP domain

SH2aa 333–408UCSCSH2 domain

PI3K_P85_iSH2aa 431–599UCSCPhosphatidylinositol 3-kinase regulatory subunit P85 inter-SH2 domain

SH2aa 624–698UCSCSH2 domain

Gene Aliases

HGNC Name

phosphoinositide-3-kinase regulatory subunit 1

HGNC Alias Symbols

p85-ALPHA; p85; p85alpha

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1734 variants

78 papers

NM_181523.3

p.N564D

c.1690A>G

66 papers

NM_181523.3

p.G376R

c.1126G>A

65 papers

NM_181523.3

p.G376R

c.1126G>C

64 papers

NM_181523.3

p.M326I

c.978G>A

64 papers

NM_181523.3

p.R649W

c.1945C>T

63 papers

NM_181523.3

p.M326I

c.978G>C

63 papers

NM_181523.3

p.M326I

c.978G>T

56 papers

NM_181523.3

p.K567E

c.1699A>G

48 papers

NM_181523.3

p.R348*

c.1042C>T

33 papers

NM_181523.3

p.Q475_E476Splc

c.1425+1G>A

31 papers

NM_181523.3

p.N564K

c.1692C>G

30 papers

NM_181523.3

p.N564K

c.1692C>A