Varaico: Literature-Extracted Genetic Variants

TBPL1

139 papers

RefSeq Summary

This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (T...

Pfam Domains

TBPaa 10–91UCSCTranscription factor TFIID (or TATA-binding protein, TBP)

TBPaa 99–181UCSCTranscription factor TFIID (or TATA-binding protein, TBP)

Gene Aliases

HGNC Name

TATA-box binding protein like 1

HGNC Alias Symbols

TLP; STUD; TRF2; TLF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004865.4

p.D99E

c.297T>A

Surrounding Variants

1 paper

NM_004865.4

p.D99E

c.297T>G

1 paper

NM_004865.4

p.D99H

c.295G>C

1 paper

NM_004865.4

p.V95insFs

c.283_284insGT

1 paper

NM_004865.4

p.V105V

c.315T>G

1 paper

NM_004865.4

p.V108M

c.322G>A

1 paper

NM_004865.4

p.E131K

c.391G>A

1 paper

NM_004865.4

p.Q150Q

c.450G>A

1 paper

NM_004865.4

p.Q94E

c.280C>G

1 paper

NM_004865.4

p.F93L

c.279T>G

1 paper

NM_004865.4

p.L88L

c.264G>A

1 paper

NM_004865.4

p.R86S

c.256C>A

1 paper

NM_004865.4

p.F79delFs

c.236delT