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.Q10_P13delFs

c.29_38del10

Surrounding Variants

1 paper

NM_194449.4

p.L12I

c.34C>A

1 paper

NM_194449.4

p.L12P

c.35T>C

1 paper

NM_194449.4

p.E2E

c.6G>A

1 paper

NM_194449.4

p.E18K

c.52G>A

1 paper

NM_194449.4

p.M1L

c.1A>C

1 paper

NM_194449.4

p.M1L

c.1A>T

1 paper

NM_194449.4

p.E18V

c.53A>T

1 paper

NM_194449.4

p.S22P

c.64T>C

1 paper

NM_194449.4

p.A26_A40del0

c.78_119del42

1 paper

NM_194449.4

p.A27T

c.79G>A

2 papers

NM_194449.4

p.A27A

c.81C>A

1 paper

NM_194449.4

p.A28A

c.84T>A