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.N761S

c.2282A>G

Surrounding Variants

1 paper

NM_020820.4

p.A773G

c.2318C>G

1 paper

NM_020820.4

p.R777W

c.2329C>T

1 paper

NM_020820.4

p.L782L

c.2346G>A

1 paper

NM_020820.4

p.S738F

c.2213C>T

1 paper

NM_020820.4

p.Q786H

c.2358G>T

1 paper

NM_020820.4

p.Q786H

c.2358G>C

1 paper

NM_020820.4

p.Q796L

c.2387A>T

1 paper

NM_020820.4

p.P825T

c.2473C>A

1 paper

NM_020820.4

p.R832W

c.2494C>T

1 paper

NM_020820.4

p.Y730*

c.2190C>G

1 paper

NM_020820.4

p.Y730*

c.2190C>A

1 paper

NM_020820.4

p.P840H

c.2519C>A