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

1 paper

NM_181523.3

p.K88_P89del0

c.262_267del6

Surrounding Variants

1 paper

NM_181523.3

p.P87T

c.259C>A

2 papers

NM_181523.3

p.P87S

c.259C>T

1 paper

NM_181523.3

p.K88_A98del11

c.262_293del33

2 papers

NM_181523.3

p.P87_P89del0

c.260_265del6

2 papers

NM_181523.3

p.P87_P89del3

c.259_266del9

1 paper

NM_181523.3

p.P89ins1

c.265_266insATA

1 paper

NM_181523.3

p.P89ins1

c.265_266insGGG

1 paper

NM_181523.3

p.T86I

c.257C>T

1 paper

NM_181523.3

p.T86P

c.256A>C

1 paper

NM_181523.3

p.T86A

c.256A>G

1 paper

NM_181523.3

p.P89_P92delins

c.266_276delinsTTCAAGAAAAAAGTTTCTTGAAA

1 paper

NM_181523.3

p.P85P

c.255C>A