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.A485V

c.1454C>T

Surrounding Variants

1 paper

NM_194449.4

p.D495V

c.1484A>T

1 paper

NM_194449.4

p.V473delFs

c.1418_1419delTG

1 paper

NM_194449.4

p.V473_H476delFs

c.1417_1427del11

1 paper

NM_194449.4

p.G501R

c.1501G>A

1 paper

NM_194449.4

p.G501R

c.1501G>C

1 paper

NM_194449.4

p.P464L

c.1391C>T

1 paper

NM_194449.4

p.G456_V457delFs

c.1368_1369delGG

1 paper

NM_194449.4

p.P407T

c.1219C>A

1 paper

NM_194449.4

p.P405L

c.1214C>T

1 paper

NM_194449.4

p.P403L

c.1208C>T

1 paper

NM_194449.4

p.P400H

c.1199C>A

1 paper

NM_194449.4

p.P397P

c.1191C>G