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

1 paper

NM_015178.3

p.D444H

c.1330G>C

Surrounding Variants

2 papers

NM_001160036.2

p.A471V

c.1412C>T

1 paper

NM_015178.3

p.A452_N466del15

c.1354_1397del45

6 papers

NM_001160036.2

p.A474G

c.1421C>G

14 papers

NM_015178.3

p.R461H

c.1382G>A

NM_001160036.2

p.R483H

c.1448G>A

1 paper

NM_015178.3

p.D418delFs

c.1252delG

1 paper

NM_015178.3

p.K416_M417del1

c.1247_1249delAGA

1 paper

NM_015178.3

p.V415delFs

c.1244_1245delTG

1 paper

NM_015178.3

p.V413insFs

c.1237_1238ins4

1 paper

NM_015178.3

p.M412_V413insFs

c.1236_1237insT

1 paper

NM_015178.3

p.M412insFs

c.1234_1235insT

9 papers

NM_001160036.2

p.R507C

c.1519C>T

NM_015178.3

p.R485C

c.1453C>T

1 paper

NM_015178.3

p.D403_T406insFs

c.1207_1217dup11