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.L607fs

c.1819_1820fs

Surrounding Variants

1 paper

NM_024870.4

p.L607I

c.1819T>A

1 paper

NM_024870.4

p.L607L

c.1819T>C

1 paper

NM_024870.4

p.G606G

c.1818A>G

1 paper

NM_024870.4

p.L607delFs

c.1819delT

6 papers

NM_024870.4

p.G606_L607delins

c.1818_1819delinsGC

1 paper

NM_024870.4

p.L607delFs

c.1819_1820delTT

1 paper

NM_024870.4

p.G606_L607delFs

c.1818_1819delAT

1 paper

NM_024870.4

p.N611fs

c.1831_1832fs

1 paper

NM_024870.4

p.N611insFs

c.1832_1833insC

1 paper

NM_024870.4

p.V613L

c.1837G>C

1 paper

NM_024870.4

p.P614S

c.1840C>T

1 paper

NM_024870.4

p.E626K

c.1876G>A