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.A346P

c.1036G>C

Surrounding Variants

1 paper

NM_020820.4

p.G322S

c.964G>A

1 paper

NM_020820.4

p.A346P

c.1036G>C

1 paper

NM_020820.4

p.A346V

c.1037C>T

1 paper

NM_020820.4

p.T354T

c.1062C>T

1 paper

NM_020820.4

p.R389R

c.1167C>A

1 paper

NM_020820.4

p.R394C

c.1180C>T

1 paper

NM_020820.4

p.E395K

c.1183G>A

1 paper

NM_020820.4

p.E411K

c.1231G>A

2 papers

NM_020820.4

p.R432Q

c.1295G>A

1 paper

NM_020820.4

p.R433K

c.1298G>A

1 paper

NM_020820.4

p.P439H

c.1316C>A

1 paper

NM_020820.4

p.Y300F

c.899A>T