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

1 paper

NM_020820.4

p.L1222R

c.3665T>G

Surrounding Variants

1 paper

NM_020820.4

p.R1209Q

c.3626G>A

1 paper

NM_020820.4

p.G1201G

c.3603A>G

1 paper

NM_020820.4

p.D1230Y

c.3688G>T

2 papers

NM_020820.4

p.V1240I

c.3718G>A

1 paper

NM_020820.4

p.R1243W

c.3727C>T

2 papers

NM_020820.4

p.E1246K

c.3736G>A

1 paper

NM_020820.4

p.C1266R

c.3796T>C

1 paper

NM_020820.4

p.Q1279R

c.3836A>G

1 paper

NM_020820.4

p.H1161Q

c.3483C>G

1 paper

NM_020820.4

p.H1161Q

c.3483C>A

1 paper

NM_020820.4

p.E1153*

c.3457G>T

1 paper

NM_020820.4

p.A1118V

c.3353C>T