Varaico: Literature-Extracted Genetic Variants

PREX2

392 papers

RefSeq Summary

The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac fa...

Pfam Domains

RhoGEFaa 27–212UCSCRhoGEF domain

SOS1_NGEF_PHaa 239–359UCSCSOS1/NGEF-like PH domain

DEPaa 393–462UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

DEPaa 494–563UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

PDZaa 677–746UCSCPDZ domain

Gene Aliases

HGNC Name

phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2

HGNC Previous Symbol

DEPDC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024870.4

p.K1442insFs

c.4326dupA

Surrounding Variants

2 papers

NM_024870.4

p.V1441F

c.4321G>T

1 paper

NM_024870.4

p.Q1443fs

c.4327_4328fs

2 papers

NM_024870.4

p.K1440fs

c.4318_4319fs

2 papers

NM_024870.4

p.K1440delFs

c.4319delA

1 paper

NM_024870.4

p.A1436D

c.4307C>A

1 paper

NM_024870.4

p.R1449Splc

c.4346+1G>C

8 papers

NM_024870.4

p.Q1430*

c.4288C>T

1 paper

NM_024870.4

p.E1428K

c.4282G>A

1 paper

NM_024870.4

p.E1428*

c.4282G>T

1 paper

NM_024870.4

p.N1423D

c.4267A>G

1 paper

NM_024870.4

p.S1414G

c.4240A>G