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

2 papers

NM_181523.3

p.F646S

c.1937T>C

Surrounding Variants

1 paper

NM_181523.3

p.L647_C656del10

c.1939_1967del30

1 paper

NM_181523.3

p.L647fs

c.1939_1940fs

1 paper

NM_181523.3

p.F646_K653del8

c.1936_1958del24

1 paper

NM_181523.3

p.T645I

c.1934C>T

1 paper

NM_181523.3

p.T645fs

c.1933_1934fs

7 papers

NM_181523.3

p.V648insFs

c.1943dupT

3 papers

NM_181523.3

p.G644D

c.1931G>A

1 paper

NM_181523.3

p.G644S

c.1930G>A

1 paper

NM_181523.3

p.G644C

c.1930G>T

1 paper

NM_181523.3

p.R649fs

c.1945_1946fs

65 papers

NM_181523.3

p.R649W

c.1945C>T

NM_181504.4

p.R379W

c.1135C>T

6 papers

NM_181523.3

p.R649fs

c.1945_1946fs