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.G371S

c.1111G>A

Surrounding Variants

1 paper

NM_194449.4

p.E377_E378delFs

c.1129_1133del5

1 paper

NM_194449.4

p.A381V

c.1142C>T

1 paper

NM_194449.4

p.S385W

c.1154C>G

1 paper

NM_194449.4

p.F350S

c.1049T>C

1 paper

NM_194449.4

p.P397P

c.1191C>G

1 paper

NM_194449.4

p.P400H

c.1199C>A

1 paper

NM_194449.4

p.P403L

c.1208C>T

1 paper

NM_194449.4

p.P405L

c.1214C>T

1 paper

NM_194449.4

p.P407T

c.1219C>A

1 paper

NM_194449.4

p.G331W

c.991G>T

1 paper

NM_194449.4

p.A316P

c.946G>C

1 paper

NM_194449.4

p.G293W

c.877G>T