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.T1317M

c.3950C>T

Surrounding Variants

1 paper

NM_020820.4

p.D1316Y

c.3946G>T

1 paper

NM_020820.4

p.R1322C

c.3964C>T

1 paper

NM_020820.4

p.L1331Q

c.3992T>A

2 papers

NM_020820.4

p.K1340E

c.4018A>G

1 paper

NM_020820.4

p.R1349C

c.4045C>T

1 paper

NM_020820.4

p.R1349H

c.4046G>A

1 paper

NM_020820.4

p.A1363T

c.4087G>A

2 papers

NM_020820.4

p.R1365R

c.4095C>T

2 papers

NM_020820.4

p.S1385L

c.4154C>T

1 paper

NM_020820.4

p.Q1279R

c.3836A>G

1 paper

NM_020820.4

p.C1266R

c.3796T>C

1 paper

NM_020820.4

p.S1433G

c.4297A>G