Varaico: Literature-Extracted Genetic Variants

PHLPP1

161 papers

RefSeq Summary

This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a ...

Pfam Domains

RA_3aa 462–525UCSCPHLPP protein RA domain

PHaa 537–636UCSCPH domain

LRR_8aa 714–772UCSCLeucine rich repeat

LRR_6aa 829–849UCSCLeucine Rich repeat

PP2Caa 1174–1415UCSCProtein phosphatase 2C

Gene Aliases

HGNC Name

PH domain and leucine rich repeat protein phosphatase 1

HGNC Previous Symbol

PLEKHE1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_194449.4

p.K591_V592Splc

c.1774-111A>T

Surrounding Variants

1 paper

NM_194449.4

p.E594G

c.1781A>G

2 papers

NM_194449.4

p.K596E

c.1786A>G

1 paper

NM_194449.4

p.P609P

c.1827C>A

1 paper

NM_194449.4

p.F618_D619del2

c.1852_1856del6

2 papers

NM_194449.4

p.T622A

c.1864A>G

1 paper

NM_194449.4

p.Y624fs

c.1870_1871fs

1 paper

NM_194449.4

p.L587V

c.1759C>G

1 paper

NM_194449.4

p.D576E

c.1728C>A

1 paper

NM_194449.4

p.D576E

c.1728C>G

1 paper

NM_194449.4

p.D576G

c.1727A>G

2 papers

NM_194449.4

p.C568R

c.1702T>C

5 papers

NM_194449.4

p.G566E

c.1697G>A