Varaico: Literature-Extracted Genetic Variants

RHOBTB2

114 papers

RefSeq Summary

The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell divis...

Pfam Domains

Rasaa 16–209UCSCRas family

BTBaa 257–306UCSCBTB/POZ domain

BTBaa 380–472UCSCBTB/POZ domain

BTBaa 490–598UCSCBTB/POZ domain

Gene Aliases

HGNC Name

Rho related BTB domain containing 2

HGNC Alias Symbols

KIAA0717; DBC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_015178.3

p.R461H

c.1382G>A

NM_001160036.2

p.R483H

c.1448G>A

Surrounding Variants

6 papers

NM_001160036.2

p.A474G

c.1421C>G

1 paper

NM_015178.3

p.A452_N466del15

c.1354_1397del45

2 papers

NM_001160036.2

p.A471V

c.1412C>T

1 paper

NM_015178.3

p.D444H

c.1330G>C

9 papers

NM_001160036.2

p.R507C

c.1519C>T

NM_015178.3

p.R485C

c.1453C>T

1 paper

NM_015178.3

p.R485L

c.1454G>T

5 papers

NM_001160036.2

p.N510D

c.1528A>G

6 papers

NM_015178.3

p.R489G

c.1465C>G

NM_001160036.2

p.R511G

c.1531C>G

10 papers

NM_001160036.2

p.R511W

c.1531C>T

NM_015178.3

p.R489W

c.1465C>T

10 papers

NM_001160036.2

p.R511Q

c.1532G>A

NM_015178.3

p.R489Q

c.1466G>A

1 paper

NM_015178.3

p.D418delFs

c.1252delG

1 paper

NM_015178.3

p.K416_M417del1

c.1247_1249delAGA