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.E456K

c.1366G>A

Surrounding Variants

1 paper

NM_020820.4

p.V479Splc

c.1435+78T>C

1 paper

NM_020820.4

p.F485L

c.1453T>C

1 paper

NM_020820.4

p.F485L

c.1455C>G

1 paper

NM_020820.4

p.F485L

c.1455C>A

1 paper

NM_020820.4

p.D497N

c.1489G>A

1 paper

NM_020820.4

p.P527S

c.1579C>T

1 paper

NM_020820.4

p.P527T

c.1579C>A

1 paper

NM_020820.4

p.K537delFs

c.1610delT

1 paper

NM_020820.4

p.Y539C

c.1616A>G

1 paper

NM_020820.4

p.P439H

c.1316C>A

1 paper

NM_020820.4

p.R433K

c.1298G>A

2 papers

NM_020820.4

p.R432Q

c.1295G>A