Varaico: Literature-Extracted Genetic Variants

Gene:RCBTB1
Variant:p.G70delFs

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
2 papers
NM_018191.4
p.G70delFs
c.208delC
Surrounding Variants
2 papers
NM_018191.4
p.E69D
c.207A>T
2 papers
NM_018191.4
p.E69D
c.207A>C
1 paper
NM_018191.4
p.K74E
c.220A>G
1 paper
NM_018191.4
p.P65L
c.194C>T
1 paper
NM_018191.4
p.Y81Y
c.243C>T
8 papers
NM_018191.4
p.G57delFs
c.170delC
4 papers
NM_018191.4
p.G57fs
c.169_170fs
1 paper
NM_018191.4
p.C53Y
c.158G>A
1 paper
NM_018191.4
p.S51Fs
c.152delinsTTFs
1 paper
NM_018191.4
p.S51fs
c.151_152fs
2 papers
NM_018191.4
p.N49S
c.146A>G
1 paper
NM_018191.4
p.V45G
c.134T>G
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