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

2 papers

NM_020820.4

p.S235C

c.704C>G

Surrounding Variants

1 paper

NM_020820.4

p.T232I

c.695C>T

1 paper

NM_020820.4

p.N238S

c.713A>G

1 paper

NM_020820.4

p.T240S

c.718A>T

1 paper

NM_020820.4

p.T240A

c.718A>G

1 paper

NM_020820.4

p.T240S

c.719C>G

1 paper

NM_020820.4

p.T240N

c.719C>A

1 paper

NM_020820.4

p.A222V

c.665C>T

1 paper

NM_020820.4

p.Q252K

c.754C>A

1 paper

NM_020820.4

p.Q254*

c.760C>T

1 paper

NM_020820.4

p.N264T

c.791A>C

1 paper

NM_020820.4

p.Q271L

c.812A>T

1 paper

NM_020820.4

p.Q271delins

c.812_813delinsTT