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

1–12 of 676 variants

11 papers

NM_024870.4

p.E824*

c.2470G>T

8 papers

NM_024870.4

p.L50V

c.148T>G

8 papers

NM_024870.4

p.V537I

c.1609G>A

8 papers

NM_024870.4

p.Q1430*

c.4288C>T

7 papers

NM_024870.4

p.R297C

c.889C>T

7 papers

NM_024870.4

p.G844D

c.2531G>A

6 papers

NM_024870.4

p.E553K

c.1657G>A

6 papers

NM_024870.4

p.G606_L607delins

c.1818_1819delinsGC

6 papers

NM_024870.4

p.S1488L

c.4463C>T

6 papers

NM_024870.4

p.A1523P

c.4567G>C

5 papers

NM_024870.4

p.R155Q

c.464G>A

5 papers

NM_024870.4

p.K278*

c.832A>T