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.P986H

c.2957C>A

Surrounding Variants

1 paper

NM_020820.4

p.T985N

c.2954C>A

1 paper

NM_020820.4

p.R998H

c.2993G>A

1 paper

NM_020820.4

p.G1004C

c.3010G>T

1 paper

NM_020820.4

p.G1004S

c.3010G>A

1 paper

NM_020820.4

p.Q1009H

c.3027A>T

1 paper

NM_020820.4

p.Q1009H

c.3027A>C

1 paper

NM_020820.4

p.P961P

c.2883G>A

1 paper

NM_020820.4

p.P959L

c.2876C>T

1 paper

NM_020820.4

p.L957Fs

c.2870delinsCTFs

1 paper

NM_020820.4

p.I1022L

c.3064A>C

1 paper

NM_020820.4

p.A1078S

c.3232G>T

1 paper

NM_020820.4

p.R920S

c.2758C>A