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

6 papers

NM_024870.4

p.E553K

c.1657G>A

Surrounding Variants

1 paper

NM_024870.4

p.S552N

c.1655G>A

1 paper

NM_024870.4

p.K551E

c.1651A>G

1 paper

NM_024870.4

p.E550K

c.1648G>A

1 paper

NM_024870.4

p.E557Q

c.1669G>C

1 paper

NM_024870.4

p.P558T

c.1672C>A

1 paper

NM_024870.4

p.P558A

c.1672C>G

1 paper

NM_024870.4

p.P558L

c.1673C>T

2 papers

NM_024870.4

p.R562fs

c.1684_1685fs

1 paper

NM_024870.4

p.R562G

c.1684C>G

1 paper

NM_024870.4

p.R562C

c.1684C>T

1 paper

NM_024870.4

p.S565insFs

c.1693dupT

2 papers

NM_024870.4

p.R562L

c.1685G>T