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.D16G

c.47A>G

Surrounding Variants

1 paper

NM_020820.4

p.G15A

c.44G>C

1 paper

NM_020820.4

p.A18A

c.54C>T

1 paper

NM_020820.4

p.A18_H19ins4

c.54_55ins12

1 paper

NM_020820.4

p.G13V

c.38G>T

1 paper

NM_020820.4

p.G13R

c.37G>C

1 paper

NM_020820.4

p.G13R

c.37G>A

1 paper

NM_020820.4

p.D12N

c.34G>A

1 paper

NM_020820.4

p.R23W

c.67C>T

1 paper

NM_020820.4

p.P30L

c.89C>T

1 paper

NM_020820.4

p.V53I

c.157G>A

1 paper

NM_020820.4

p.L54_N55ins12

c.160_164ins36

4 papers

NM_020820.4

p.E56A

c.167A>C