Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDC42EP2

Variant:p.A169S

CDC42EP2

10 papers

RefSeq Summary

CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the B...

Pfam Domains

PBDaa 29–87UCSCP21-Rho-binding domain

BORG_CEPaa 103–155UCSCCdc42 effector

BORG_CEPaa 153–202UCSCCdc42 effector

Gene Aliases

HGNC Name

CDC42 effector protein 2

HGNC Alias Symbol

BORG1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:65321403 G>T

NM_006779.4

p.A169S

c.505G>T

BORG_CEP

Exome: 0.0% (AC=0, hom=0)Genome: n/a33 overlapping SVs

Surrounding Variants

1 paper

chr11:65321425 A>G

NM_006779.4

p.N176S

c.527A>G

BORG_CEP

Exome: 0.1% (AC=1069, hom=15)Genome: 0.7% (AC=1077, hom=12)33 overlapping SVs

1 paper

chr11:65321455 A>C

NM_006779.4

p.D186A

c.557A>C

BORG_CEP

Exome: 0.0% (AC=1, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr11:65321308 C>T

NM_006779.4

p.T137I

c.410C>T

BORG_CEP

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=2, hom=0)33 overlapping SVs

1 paper

chr11:65321283 A>T

NM_006779.4

p.K129*

c.385A>T

BORG_CEP

exact variant not in gnomAD33 overlapping SVs

1 paper

chr11:65321237 C>T

NM_006779.4

p.I113I

c.339C>T

BORG_CEP

Exome: 0.1% (AC=2160, hom=2)Genome: 0.1% (AC=143, hom=1)33 overlapping SVs

1 paper

chr11:65321095 C>T

NM_006779.4

p.P66L

c.197C>T

PBD

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)33 overlapping SVs

1 paper

chr11:65321009 C>A

NM_006779.4

p.F37L

c.111C>A

PBD

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)33 overlapping SVs

1 paper

chr11:65321009 C>G

NM_006779.4

p.F37L

c.111C>G

PBD

exact variant not in gnomAD33 overlapping SVs

1 paper

chr11:65321007 T>C

NM_006779.4

p.F37L

c.109T>C

PBD

exact variant not in gnomAD33 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."