Varaico: Literature-Extracted Genetic Variants

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

TFIIBaa 82–173UCSCTranscription 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.S535Y

c.1604C>A

Surrounding Variants

1 paper

NM_001519.4

p.V542M

c.1624G>A

1 paper

NM_001519.4

p.M528I

c.1584G>A

2 papers

NM_001519.4

p.E526K

c.1576G>A

2 papers

NM_001519.4

p.G550fs

c.1648_1649fs

2 papers

NM_001519.4

p.G550delFs

c.1649delC

1 paper

NM_001519.4

p.S553N

c.1658G>A

2 papers

NM_001519.4

p.P506T

c.1516C>A

1 paper

NM_001519.4

p.R572G

c.1714C>G

1 paper

NM_001242789.2

p.R334Q

c.1001G>A

1 paper

NM_001519.4

p.Y501C

c.1502A>G

4 papers

NM_001519.4

p.E487Splc

c.1459+2T>C

1 paper

NM_001519.4

p.R486R

c.1456A>C