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

5 papers

NM_024870.4

p.K278*

c.832A>T

Surrounding Variants

1 paper

NM_024870.4

p.R280T

c.839G>C

1 paper

NM_024870.4

p.V273L

c.817G>C

1 paper

NM_024870.4

p.V273L

c.817G>T

1 paper

NM_024870.4

p.D269N

c.805G>A

2 papers

NM_024870.4

p.D269H

c.805G>C

1 paper

NM_024870.4

p.L267fs

c.799_800fs

3 papers

NM_024870.4

p.L267F

c.799C>T

1 paper

NM_024870.4

p.R263Q

c.788G>A

2 papers

NM_024870.4

p.R263W

c.787C>T

1 paper

NM_024870.4

p.E262D

c.786A>T

1 paper

NM_024870.4

p.I260V

c.778A>G

1 paper

NM_024870.4

p.I260F

c.778A>T