Varaico: Literature-Extracted Genetic Variants

PREX1

137 papers

RefSeq Summary

The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bou...

Pfam Domains

RhoGEFaa 53–238UCSCRhoGEF domain

SOS1_NGEF_PHaa 265–390UCSCSOS1/NGEF-like PH domain

DEPaa 426–494UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

DEPaa 526–595UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

Gene Aliases

HGNC Name

phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1

HGNC Alias Symbols

KIAA1415; P-REX1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 164 variants

4 papers

NM_020820.4

p.E56A

c.167A>C

4 papers

NM_020820.4

p.S1559T

c.4676G>C

3 papers

NM_020820.4

p.T1469M

c.4406C>T

2 papers

NM_020820.4

p.S235C

c.704C>G

2 papers

NM_020820.4

p.R432Q

c.1295G>A

2 papers

NM_020820.4

p.E456K

c.1366G>A

2 papers

NM_020820.4

p.V569M

c.1705G>A

2 papers

NM_020820.4

p.V659M

c.1975G>A

2 papers

NM_020820.4

p.A1118T

c.3352G>A

2 papers

NM_020820.4

p.V1240I

c.3718G>A

2 papers

NM_020820.4

p.E1246K

c.3736G>A

2 papers

NM_020820.4

p.K1340E

c.4018A>G