Varaico: Literature-Extracted Genetic Variants

Gene:TBP
Variant:p.Q72del1

TBP

694 papers

RefSeq Summary

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to...

Pfam Domains

TBPaa 162–244UCSCTranscription factor TFIID (or TATA-binding protein, TBP)
TBPaa 252–335UCSCTranscription factor TFIID (or TATA-binding protein, TBP)

Gene Aliases

HGNC Name

TATA-box binding protein

HGNC Previous Symbols

GTF2D1; SCA17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_003194.5
p.Q72del1
c.214_216delCAA
Surrounding Variants
1 paper
NM_003194.5
p.Q71Q
c.213G>A
1 paper
NM_003194.5
p.Q72_Q75del0
c.216_224del9
1 paper
NM_003194.5
p.Q72_Q73insFs
c.216_217insA
1 paper
NM_003194.5
p.Q72_Q73insFs
c.216_217ins4
2 papers
NM_003194.5
p.Q72Q
c.216A>G
4 papers
NM_003194.5
p.Q73del1
c.217_218delCAG
1 paper
NM_003194.5
p.Q71ins5
c.212_213ins15
1 paper
NM_003194.5
p.Q74del1
c.220_222delCAA
2 papers
NM_003194.5
p.Q70_Q74del0
c.208_222del15
1 paper
NM_003194.5
p.Q74fs
c.220_221fs
1 paper
NM_003194.5
p.Q74*
c.220C>T
1 paper
NM_003194.5
p.Q74R
c.221A>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."