Varaico: Literature-Extracted Genetic Variants

Gene:RCBTB1
Variant:p.I413S

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.I413S
c.1238T>G
Surrounding Variants
1 paper
NM_018191.4
p.D414H
c.1240G>C
1 paper
NM_018191.4
p.D414N
c.1240G>A
1 paper
NM_018191.4
p.Y421fs
c.1261_1262fs
1 paper
NM_018191.4
p.Y421F
c.1262A>T
1 paper
NM_018191.4
p.R422C
c.1264C>T
2 papers
NM_018191.4
p.Y421delFs
c.1262_1263delAT
1 paper
NM_018191.4
p.F424C
c.1271T>G
4 papers
NM_018191.4
p.S401L
c.1202C>T
1 paper
NM_018191.4
p.L428_Y429delFs
c.1282_1285del4
1 paper
NM_018191.4
p.G442Splc
c.1325-2A>G
1 paper
NM_018191.4
p.L455L
c.1363C>T
1 paper
NM_018191.4
p.F476delFs
c.1428delG
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