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

1–12 of 173 variants

5 papers

NM_194449.4

p.G566E

c.1697G>A

2 papers

NM_194449.4

p.A27A

c.81C>A

2 papers

NM_194449.4

p.A136V

c.407C>T

2 papers

NM_194449.4

p.S149L

c.446C>T

2 papers

NM_194449.4

p.C568R

c.1702T>C

2 papers

NM_194449.4

p.K596E

c.1786A>G

2 papers

NM_194449.4

p.T622A

c.1864A>G

2 papers

NM_194449.4

p.V1386M

c.4156G>A

2 papers

NM_194449.4

p.L1503V

c.4507C>G

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.E2E

c.6G>A