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

1–12 of 49 variants

3 papers

NM_004865.4

p.L33W

c.98T>G

2 papers

NM_004865.4

p.D6G

c.17A>G

2 papers

NM_004865.4

p.D10A

c.29A>C

2 papers

NM_004865.4

p.C18S

c.52T>A

2 papers

NM_004865.4

p.G70R

c.208G>A

2 papers

NM_004865.4

p.P162S

c.484C>T

1 paper

NM_004865.4

p.M1V

c.1A>G

1 paper

NM_004865.4

p.M1delFs

c.2delT

1 paper

NM_004865.4

p.M1T

c.2T>C

1 paper

NM_004865.4

p.M1_D2insFs

c.3_4insT

1 paper

NM_004865.4

p.A3S

c.7G>T

1 paper

NM_004865.4

p.D4E

c.12C>A