Varaico: Literature-Extracted Genetic Variants

Gene:RHOBTB1
Variant:p.W83R

RHOBTB1

38 papers

RefSeq Summary

The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-...

Pfam Domains

Rasaa 16–209UCSCRas family
BTBaa 390–457UCSCBTB/POZ domain
BTBaa 475–583UCSCBTB/POZ domain

Gene Aliases

HGNC Name

Rho related BTB domain containing 1

HGNC Alias Symbol

KIAA0740

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014836.5
p.W83R
c.247T>A
Surrounding Variants
1 paper
NM_014836.5
p.W83R
c.247T>C
1 paper
NM_014836.5
p.R94H
c.281G>A
1 paper
NM_014836.5
p.R99Splc
c.296+778T>C
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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."