Varaico: Literature-Extracted Genetic Variants

Gene:RHOBTB1
Variant:p.Q193R

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.Q193R
c.578A>G
Surrounding Variants
1 paper
NM_014836.5
p.D192A
c.575A>C
1 paper
NM_014836.5
p.A207V
c.620C>T
1 paper
NM_014836.5
p.D167G
c.500A>G
1 paper
NM_014836.5
p.P236R
c.707C>G
1 paper
NM_014836.5
p.L272I
c.814C>A
1 paper
NM_014836.5
p.L272P
c.815T>C
1 paper
NM_014836.5
p.D294E
c.882T>G
1 paper
NM_014836.5
p.D294E
c.882T>A
1 paper
NM_014836.5
p.R333K
c.998G>A
2 papers
NM_014836.5
p.S352N
c.1055G>A
1 paper
NM_014836.5
p.A356G
c.1067C>G
1 paper
NM_014836.5
p.P366S
c.1096C>T
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