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

Selected Variant

3 papers

NM_020820.4

p.T1469M

c.4406C>T

Surrounding Variants

1 paper

NM_020820.4

p.E1456K

c.4366G>A

1 paper

NM_020820.4

p.A1436V

c.4307C>T

1 paper

NM_020820.4

p.S1433G

c.4297A>G

1 paper

NM_020820.4

p.N1474K

c.4422C>G

1 paper

NM_020820.4

p.N1474K

c.4422C>A

1 paper

NM_020820.4

p.A1486S

c.4456G>T

1 paper

NM_020820.4

p.A1495T

c.4483G>A

1 paper

NM_020820.4

p.R1506C

c.4516C>T

1 paper

NM_020820.4

p.R1506S

c.4516C>A

1 paper

NM_020820.4

p.R1515Q

c.4544G>A

1 paper

NM_020820.4

p.S1523I

c.4568G>T

2 papers

NM_020820.4

p.A1526V

c.4577C>T