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.K286T

c.857A>C

Surrounding Variants

1 paper

NM_024870.4

p.S288_R293delFs

c.864_877del14

1 paper

NM_024870.4

p.T289fs

c.865_866fs

1 paper

NM_024870.4

p.R281Q

c.842G>A

1 paper

NM_024870.4

p.R281W

c.841C>T

1 paper

NM_024870.4

p.L295F

c.883C>T

1 paper

NM_024870.4

p.R297S

c.889C>A

1 paper

NM_024870.4

p.R297G

c.889C>G

7 papers

NM_024870.4

p.R297C

c.889C>T

1 paper

NM_024870.4

p.R297H

c.890G>A

1 paper

NM_024870.4

p.R297R

c.891T>G

1 paper

NM_024870.4

p.R299L

c.896G>T

1 paper

NM_024870.4

p.T302P

c.904A>C