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.A315T

c.943G>A

Surrounding Variants

2 papers

NM_024870.4

p.A315D

c.944C>A

4 papers

NM_024870.4

p.D312N

c.934G>A

1 paper

NM_024870.4

p.M305I

c.915G>C

1 paper

NM_024870.4

p.V304M

c.910G>A

1 paper

NM_024870.4

p.E303K

c.907G>A

1 paper

NM_024870.4

p.T302M

c.905C>T

1 paper

NM_024870.4

p.T302P

c.904A>C

1 paper

NM_024870.4

p.T302A

c.904A>G

1 paper

NM_024870.4

p.R299L

c.896G>T

1 paper

NM_024870.4

p.R297R

c.891T>G

1 paper

NM_024870.4

p.R297H

c.890G>A

1 paper

NM_024870.4

p.R297S

c.889C>A