Varaico: Literature-Extracted Genetic Variants

Gene:RCBTB1

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
1–12 of 105 variants
13 papers
NM_018191.4
p.N236delFs
c.707delT
8 papers
NM_018191.4
p.G57delFs
c.170delC
8 papers
NM_018191.4
p.R391Splc
c.1172+1G>A
6 papers
NM_018191.4
p.N236fs
c.706_707fs
5 papers
NM_018191.4
p.V307M
c.919G>A
4 papers
NM_018191.4
p.G57fs
c.169_170fs
4 papers
NM_018191.4
p.H325Y
c.973C>T
4 papers
NM_018191.4
p.E349fs
c.1045_1046fs
4 papers
NM_018191.4
p.H384R
c.1151A>G
4 papers
NM_018191.4
p.S401L
c.1202C>T
3 papers
NM_018191.4
p.W310C
c.930G>T
3 papers
NM_018191.4
p.W310C
c.930G>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."