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.D191A

c.572A>C

Surrounding Variants

1 paper

NM_194449.4

p.S190T

c.568T>A

1 paper

NM_194449.4

p.S190A

c.568T>G

1 paper

NM_194449.4

p.H197H

c.591C>T

1 paper

NM_194449.4

p.R182W

c.544C>T

1 paper

NM_194449.4

p.G202S

c.604G>A

1 paper

NM_194449.4

p.G202A

c.605G>C

1 paper

NM_194449.4

p.G202V

c.605G>T

1 paper

NM_194449.4

p.K180E

c.538A>G

1 paper

NM_194449.4

p.V206I

c.616G>A

1 paper

NM_194449.4

p.V206_F207delFs

c.618_619delCT

1 paper

NM_194449.4

p.R170Q

c.509G>A

1 paper

NM_194449.4

p.T169A

c.505A>G