Varaico: Literature-Extracted Genetic Variants

Gene:BRF1
Variant:p.E487Splc

BRF1

107 papers

RefSeq Summary

This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encodin...

Pfam Domains

Zn_Ribbon_TFaa 4–46UCSCTFIIB zinc-binding
Zn_Ribbon_TFaa 4–46UCSCTFIIB zinc-binding
Zn_Ribbon_TFaa 4–46UCSCTFIIB zinc-binding
TFIIBaa 82–173UCSCTranscription factor TFIIB repeat
TFIIBaa 176–270UCSCTranscription factor TFIIB repeat
TFIIBaa 176–270UCSCTranscription factor TFIIB repeat

Gene Aliases

HGNC Name

BRF1 general transcription factor IIIB subunit

HGNC Previous Symbols

TAF3B2; TAF3C; GTF3B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001519.4
p.E487Splc
c.1459+2T>C
Surrounding Variants
1 paper
NM_001519.4
p.R486R
c.1456A>C
1 paper
NM_001519.4
p.E484A
c.1451A>C
1 paper
NM_001519.4
p.E472K
c.1414G>A
1 paper
NM_001519.4
p.K470R
c.1409A>G
1 paper
NM_001519.4
p.A467T
c.1399G>A
1 paper
NM_001519.4
p.Y460fs
c.1378_1379fs
1 paper
NM_001519.4
p.Y501C
c.1502A>G
1 paper
NM_001519.4
p.L449_G451del3
c.1345_1352del9
2 papers
NM_001519.4
p.P506T
c.1516C>A
2 papers
NM_001519.4
p.E526K
c.1576G>A
1 paper
NM_001519.4
p.M528I
c.1584G>A
1 paper
NM_001519.4
p.S535Y
c.1604C>A
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."