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.L698V

c.2092C>G

Surrounding Variants

1 paper

NM_020820.4

p.R696C

c.2086C>T

1 paper

NM_020820.4

p.E673Q

c.2017G>C

2 papers

NM_020820.4

p.V659M

c.1975G>A

1 paper

NM_020820.4

p.A657V

c.1970C>T

1 paper

NM_020820.4

p.N643K

c.1929C>G

1 paper

NM_020820.4

p.N643K

c.1929C>A

1 paper

NM_020820.4

p.I639I

c.1917C>A

1 paper

NM_020820.4

p.E632Q

c.1894G>C

1 paper

NM_020820.4

p.P713P

c.2139C>A

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.S738F

c.2213C>T