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

Selected Variant

48 papers

NM_181523.3

p.R348*

c.1042C>T

Surrounding Variants

1 paper

NM_181523.3

p.R348fs

c.1042_1043fs

1 paper

NM_181523.3

p.R348_D349delFs

c.1044_1045delAG

1 paper

NM_181523.3

p.R348Q

c.1043G>A

1 paper

NM_181523.3

p.L347P

c.1040T>C

3 papers

NM_181523.3

p.D349Y

c.1045G>T

1 paper

NM_181523.3

p.D349V

c.1046A>T

1 paper

NM_181523.3

p.L347del1

c.1039_1040delCTT

1 paper

NM_181523.3

p.L347_D349delFs

c.1039_1046del8

1 paper

NM_181523.3

p.L347_D352delFs

c.1039_1055del17

2 papers

NM_181523.3

p.T350fs

c.1048_1049fs

1 paper

NM_181523.3

p.K346fs

c.1036_1037fs

1 paper

NM_181523.3

p.T350S

c.1048A>T