Varaico: Literature-Extracted Genetic Variants

Gene:RCBTB1
Variant:p.S232R

RCBTB1

84 papers

RefSeq Summary

This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells ...

Pfam Domains

WD40_RLDaa 29–322UCSCRCC1-like domain
BTBaa 360–467UCSCBTB/POZ domain

Gene Aliases

HGNC Name

RCC1 and BTB domain containing protein 1

HGNC Alias Symbols

FLJ10716; CLLD7; CLLL7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018191.4
p.S232R
c.696C>A
Surrounding Variants
1 paper
NM_018191.4
p.S232R
c.696C>G
1 paper
NM_018191.4
p.S232R
c.694A>C
1 paper
NM_018191.4
p.V235A
c.704T>C
6 papers
NM_018191.4
p.N236fs
c.706_707fs
13 papers
NM_018191.4
p.N236delFs
c.707delT
1 paper
NM_018191.4
p.Q237_I238Splc
c.711+1G>C
1 paper
NM_018191.4
p.Q237_I238Splc
c.711+2T>C
1 paper
NM_018191.4
p.P224L
c.671C>T
1 paper
NM_018191.4
p.G219V
c.656G>T
1 paper
NM_018191.4
p.Q212*
c.634C>T
1 paper
NM_018191.4
p.G211R
c.631G>C
1 paper
NM_018191.4
p.W205S
c.614G>C
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."