Varaico: Literature-Extracted Genetic Variants

Gene:RCBTB1
Variant:p.H325Y

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
4 papers
NM_018191.4
p.H325Y
c.973C>T
Surrounding Variants
2 papers
NM_018191.4
p.P321L
c.962C>T
1 paper
NM_018191.4
p.D331N
c.991G>A
1 paper
NM_018191.4
p.S317S
c.951C>T
1 paper
NM_018191.4
p.A337A
c.1011C>T
3 papers
NM_018191.4
p.W310C
c.930G>T
3 papers
NM_018191.4
p.W310C
c.930G>C
1 paper
NM_018191.4
p.S342L
c.1025C>T
5 papers
NM_018191.4
p.V307M
c.919G>A
1 paper
NM_018191.4
p.W343*
c.1029G>A
2 papers
NM_018191.4
p.Q303fs
c.907_908fs
2 papers
NM_018191.4
p.T302insFs
c.905_906insTT
1 paper
NM_018191.4
p.T297M
c.890C>T
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."