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.F1368_F1369del2

c.4102_4106del6

Surrounding Variants

1 paper

NM_194449.4

p.Q1358L

c.4073A>T

1 paper

NM_194449.4

p.V1357L

c.4069G>C

1 paper

NM_194449.4

p.V1357L

c.4069G>T

1 paper

NM_194449.4

p.S1381P

c.4141T>C

1 paper

NM_194449.4

p.A1385A

c.4155C>T

2 papers

NM_194449.4

p.V1386M

c.4156G>A

1 paper

NM_194449.4

p.A1395T

c.4183G>A

1 paper

NM_194449.4

p.R1340C

c.4018C>T

1 paper

NM_194449.4

p.T1339M

c.4016C>T

1 paper

NM_194449.4

p.D1413A

c.4238A>C

1 paper

NM_194449.4

p.S1416G

c.4246A>G

1 paper

NM_194449.4

p.A1417_D1427del11

c.4249_4280del33