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.R557_M563ins2

c.1669_1689dup21

Surrounding Variants

7 papers

NM_181523.3

p.R557*

c.1669C>T

1 paper

NM_181523.3

p.R557fs

c.1669_1670fs

5 papers

NM_181523.3

p.R557Q

c.1670G>A

2 papers

NM_181523.3

p.R557P

c.1670G>C

1 paper

NM_181523.3

p.E558_K561ins1

c.1672_1683dup12

2 papers

NM_181523.3

p.E558fs

c.1672_1673fs

1 paper

NM_181523.3

p.E558_I559delFs

c.1674_1675delAA

1 paper

NM_181523.3

p.E555K

c.1663G>A

1 paper

NM_181523.3

p.E555Q

c.1663G>C

1 paper

NM_181523.3

p.E555*

c.1663G>T

1 paper

NM_181523.3

p.I559fs

c.1675_1676fs

1 paper

NM_181523.3

p.I559N

c.1676T>A