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.E163K

c.487G>A

Surrounding Variants

2 papers

NM_024870.4

p.G164E

c.491G>A

1 paper

NM_024870.4

p.L166F

c.498A>C

1 paper

NM_024870.4

p.L166F

c.498A>T

1 paper

NM_024870.4

p.D159N

c.475G>A

1 paper

NM_024870.4

p.D159Y

c.475G>T

1 paper

NM_024870.4

p.V167A

c.500T>C

1 paper

NM_024870.4

p.T158A

c.472A>G

5 papers

NM_024870.4

p.R155Q

c.464G>A

2 papers

NM_024870.4

p.R155W

c.463C>T

1 paper

NM_024870.4

p.Q171Q

c.513A>G

1 paper

NM_024870.4

p.R172I

c.515G>T

1 paper

NM_024870.4

p.G153E

c.458G>A