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.R527H

c.1580G>A

Surrounding Variants

2 papers

NM_024870.4

p.R527S

c.1579C>A

1 paper

NM_024870.4

p.R527C

c.1579C>T

1 paper

NM_024870.4

p.T528N

c.1583C>A

1 paper

NM_024870.4

p.R529T

c.1586G>C

1 paper

NM_024870.4

p.D525Y

c.1573G>T

1 paper

NM_024870.4

p.G524E

c.1571G>A

1 paper

NM_024870.4

p.E531K

c.1591G>A

1 paper

NM_024870.4

p.M533R

c.1598T>G

1 paper

NM_024870.4

p.I534L

c.1600A>T

2 papers

NM_024870.4

p.I534M

c.1602A>G

2 papers

NM_024870.4

p.G536A

c.1607G>C

8 papers

NM_024870.4

p.V537I

c.1609G>A