Varaico: Literature-Extracted Genetic Variants

Gene:RHOBTB1
Variant:p.A575fs

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
2 papers
NM_014836.5
p.A575fs
c.1723_1724fs
Surrounding Variants
2 papers
NM_014836.5
p.L574insFs
c.1722dupT
2 papers
NM_014836.5
p.P556L
c.1667C>T
1 paper
NM_014836.5
p.A587T
c.1759G>A
1 paper
NM_014836.5
p.V591M
c.1771G>A
1 paper
NM_014836.5
p.W615*
c.1844G>A
1 paper
NM_014836.5
p.W615*
c.1845G>A
1 paper
NM_014836.5
p.R665H
c.1994G>A
1 paper
NM_014836.5
p.S682*
c.2045C>G
1 paper
NM_014836.5
p.W689S
c.2066G>C
1 paper
NM_014836.5
p.S524S
c.1572T>C
1 paper
NM_014836.5
p.V487M
c.1459G>A
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."