Varaico: Literature-Extracted Genetic Variants

Gene:PREX2
Variant:p.C833F

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.C833F
c.2498G>T
Surrounding Variants
1 paper
NM_024870.4
p.E837K
c.2509G>A
1 paper
NM_024870.4
p.D826A
c.2477A>C
1 paper
NM_024870.4
p.D826G
c.2477A>G
2 papers
NM_024870.4
p.D826N
c.2476G>A
1 paper
NM_024870.4
p.P842A
c.2524C>G
11 papers
NM_024870.4
p.E824*
c.2470G>T
1 paper
NM_024870.4
p.Y823C
c.2468A>G
7 papers
NM_024870.4
p.G844D
c.2531G>A
1 paper
NM_024870.4
p.G820A
c.2459G>C
1 paper
NM_024870.4
p.A850V
c.2549C>T
1 paper
NM_024870.4
p.L810P
c.2429T>C
1 paper
NM_024870.4
p.E806K
c.2416G>A
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