Varaico: Literature-Extracted Genetic Variants

BTAF1

102 papers

RefSeq Summary

This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of ...

Pfam Domains

DUF3535aa 586–1052UCSCDomain of unknown function (DUF3535)

SNF2-rel_domaa 1269–1584UCSCSNF2-related domain

Helicase_Caa 1618–1744UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

B-TFIID TATA-box binding protein associated factor 1

HGNC Alias Symbols

TAFII170; TAF172; MOT1; TAF-172; TAF(II)170

Papers

RefSeq ID

Protein change

DNA change

1–12 of 127 variants

2 papers

NM_003972.3

p.R434G

c.1300A>G

2 papers

NM_003972.3

p.V673I

c.2017G>A

2 papers

NM_003972.3

p.R753H

c.2258G>A

2 papers

NM_003972.3

p.W1050R

c.3148T>A

2 papers

NM_003972.3

p.W1050R

c.3148T>C

2 papers

NM_003972.3

p.P1435T

c.4303C>A

2 papers

NM_003972.3

p.R1692Q

c.5075G>A

1 paper

NM_003972.3

p.T17A

c.49A>G

1 paper

NM_003972.3

p.N77N

c.231T>C

1 paper

NM_003972.3

p.P80fs

c.238_239fs

1 paper

NM_003972.3

p.P80L

c.239C>T

1 paper

NM_003972.3

p.R83fs

c.247_248fs