Varaico: Literature-Extracted Genetic Variants

Gene:BRF1
Variant:p.H130H

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
1 paper
NM_001519.4
p.H130H
c.390C>T
Surrounding Variants
1 paper
NM_001519.4
p.V131M
c.391G>A
1 paper
NM_001519.4
p.L138P
c.413T>C
1 paper
NM_001519.4
p.V139L
c.415G>C
1 paper
NM_001519.4
p.C140S
c.418T>A
1 paper
NM_001519.4
p.C140S
c.419G>C
3 papers
NM_001519.4
p.R141C
c.421C>T
1 paper
NM_001519.4
p.R141H
c.422G>A
1 paper
NM_001519.4
p.T142A
c.424A>G
2 papers
NM_001519.4
p.T109I
c.326C>T
1 paper
NM_001519.4
p.H105H
c.315C>T
1 paper
NM_001519.4
p.Q101*
c.301C>T
1 paper
NM_001519.4
p.R91H
c.272G>A
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