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.L1482_S1488delFs

c.4445_4464del20

Surrounding Variants

1 paper

NM_024870.4

p.R1484fs

c.4450_4451fs

1 paper

NM_024870.4

p.L1476L

c.4428C>T

6 papers

NM_024870.4

p.S1488L

c.4463C>T

1 paper

NM_024870.4

p.R1494H

c.4481G>A

1 paper

NM_024870.4

p.A1496S

c.4486G>T

4 papers

NM_024870.4

p.A1497T

c.4489G>A

1 paper

NM_024870.4

p.A1499E

c.4496C>A

1 paper

NM_024870.4

p.T1501T

c.4503A>T

1 paper

NM_024870.4

p.A1502T

c.4504G>A

1 paper

NM_024870.4

p.A1505S

c.4513G>T

1 paper

NM_024870.4

p.S1514F

c.4541C>T

1 paper

NM_024870.4

p.S1515L

c.4544C>T