Varaico: Literature-Extracted Genetic Variants

GTF2B

161 papers

RefSeq Summary

This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a ...

Pfam Domains

Zn_Ribbon_TFaa 13–55UCSCTFIIB zinc-binding

TFIIBaa 110–201UCSCTranscription factor TFIIB repeat

TFIIBaa 204–295UCSCTranscription factor TFIIB repeat

Gene Aliases

HGNC Name

general transcription factor IIB

HGNC Alias Symbol

TFIIB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001514.6

p.K189E

c.565A>G

Surrounding Variants

1 paper

NM_001514.6

p.V183A

c.548T>C

1 paper

NM_001514.6

p.V183I

c.547G>A

2 papers

NM_001514.6

p.K200E

c.598A>G

1 paper

NM_001514.6

p.A201V

c.602C>T

1 paper

NM_001514.6

p.S205C

c.613A>T

1 paper

NM_001514.6

p.D207N

c.619G>A

1 paper

NM_001514.6

p.D213A

c.638A>C

1 paper

NM_001514.6

p.V228V

c.684A>T

3 papers

NM_001514.6

p.E241D

c.723A>T

3 papers

NM_001514.6

p.E241D

c.723A>C

1 paper

NM_001514.6

p.E241_L242delins

c.723_724delinsTT

1 paper

NM_001514.6

p.I251M

c.753C>G