Varaico: Literature-Extracted Genetic Variants

Gene:RCBTB1
Variant:p.L372V

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.L372V
c.1114C>G
Surrounding Variants
1 paper
NM_018191.4
p.R375*
c.1123C>T
4 papers
NM_018191.4
p.H384R
c.1151A>G
1 paper
NM_018191.4
p.T355del1
c.1063_1064delTGT
2 papers
NM_018191.4
p.L388F
c.1164G>T
2 papers
NM_018191.4
p.L388F
c.1164G>C
1 paper
NM_018191.4
p.K389T
c.1166A>C
1 paper
NM_018191.4
p.I390S
c.1169T>G
1 paper
NM_018191.4
p.R391Splc
c.1172+1G>C
8 papers
NM_018191.4
p.R391Splc
c.1172+1G>A
4 papers
NM_018191.4
p.E349fs
c.1045_1046fs
4 papers
NM_018191.4
p.S401L
c.1202C>T
1 paper
NM_018191.4
p.I413S
c.1238T>G
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