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.C867Y

c.2600G>A

Surrounding Variants

1 paper

NM_020820.4

p.K872N

c.2616G>T

1 paper

NM_020820.4

p.K872N

c.2616G>C

1 paper

NM_020820.4

p.R877H

c.2630G>A

1 paper

NM_020820.4

p.G878S

c.2632G>A

1 paper

NM_020820.4

p.P840H

c.2519C>A

1 paper

NM_020820.4

p.R832W

c.2494C>T

1 paper

NM_020820.4

p.P825T

c.2473C>A

1 paper

NM_020820.4

p.K885_I886Splc

c.2655+73A>G

1 paper

NM_020820.4

p.E888K

c.2662G>A

1 paper

NM_020820.4

p.V898M

c.2692G>A

1 paper

NM_020820.4

p.R903Q

c.2708G>A

1 paper

NM_020820.4

p.R920S

c.2758C>A