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

Selected Variant

1 paper

NM_003972.3

p.R83insFs

c.248_249insC

Surrounding Variants

1 paper

NM_003972.3

p.R83fs

c.247_248fs

1 paper

NM_003972.3

p.P80L

c.239C>T

1 paper

NM_003972.3

p.P80fs

c.238_239fs

1 paper

NM_003972.3

p.N77N

c.231T>C

1 paper

NM_003972.3

p.E85Splc

c.254-8T>G

1 paper

NM_003972.3

p.D104Y

c.310G>T

1 paper

NM_003972.3

p.I108insFs

c.322dupA

1 paper

NM_003972.3

p.C109insFs

c.326dupG

1 paper

NM_003972.3

p.G134S

c.400G>A

1 paper

NM_003972.3

p.T17A

c.49A>G

1 paper

NM_003972.3

p.G134Splc

c.401-1514G>A