Varaico: Literature-Extracted Genetic Variants

Gene:BRF1

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
1–12 of 133 variants
12 papers
NM_001519.4
p.S226L
c.677C>T
9 papers
NM_001519.4
p.R223W
c.667C>T
9 papers
NM_001519.4
p.P292H
c.875C>A
7 papers
NM_001519.4
p.T259M
c.776C>T
4 papers
NM_001519.4
p.V75M
c.223G>A
4 papers
NM_001519.4
p.C184fs
c.550_551fs
4 papers
NM_001519.4
p.C184delFs
c.551delC
4 papers
NM_001519.4
p.W218C
c.654G>C
4 papers
NM_001519.4
p.P292R
c.875C>G
4 papers
NM_001519.4
p.E487Splc
c.1459+2T>C
3 papers
NM_001519.4
p.R141C
c.421C>T
3 papers
NM_001519.4
p.W218G
c.652T>G
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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."