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.L28L

c.82T>C

Surrounding Variants

1 paper

NM_004865.4

p.L28I

c.82T>A

1 paper

NM_004865.4

p.K30R

c.89A>G

1 paper

NM_004865.4

p.R23T

c.68G>C

1 paper

NM_004865.4

p.A32A

c.96T>A

3 papers

NM_004865.4

p.L33W

c.98T>G

1 paper

NM_004865.4

p.V19D

c.56T>A

1 paper

NM_004865.4

p.C18S

c.53G>C

2 papers

NM_004865.4

p.C18S

c.52T>A

1 paper

NM_004865.4

p.T14A

c.40A>G

1 paper

NM_004865.4

p.V44A

c.131T>C

2 papers

NM_004865.4

p.D10A

c.29A>C

1 paper

NM_004865.4

p.D10insFs

c.29_30insA