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.S1547_E1554insFs

c.4641_4662dup22

Surrounding Variants

1 paper

NM_194449.4

p.D1549N

c.4645G>A

1 paper

NM_194449.4

p.A1539T

c.4615G>A

1 paper

NM_194449.4

p.G1555fs

c.4663_4664fs

1 paper

NM_194449.4

p.V1556I

c.4666G>A

1 paper

NM_194449.4

p.N1559N

c.4677C>T

1 paper

NM_194449.4

p.K1577N

c.4731G>C

1 paper

NM_194449.4

p.K1577N

c.4731G>T

2 papers

NM_194449.4

p.L1503V

c.4507C>G

1 paper

NM_194449.4

p.G1619E

c.4856G>A

1 paper

NM_194449.4

p.S1451S

c.4353A>G

1 paper

NM_194449.4

p.V1674A

c.5021T>C

1 paper

NM_194449.4

p.V1418_V1419del2

c.4252_4256del6