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

2 papers

NM_003972.3

p.R753H

c.2258G>A

Surrounding Variants

1 paper

NM_003972.3

p.R753C

c.2257C>T

1 paper

NM_003972.3

p.L754V

c.2260T>G

1 paper

NM_003972.3

p.D756G

c.2267A>G

1 paper

NM_003972.3

p.Y764N

c.2290T>A

1 paper

NM_003972.3

p.A786S

c.2356G>T

1 paper

NM_003972.3

p.K741_E742Splc

c.2224-65C>T

1 paper

NM_003972.3

p.G793delins

c.2378_2379delinsAA

1 paper

NM_003972.3

p.I803V

c.2407A>G

1 paper

NM_003972.3

p.L684F

c.2052G>C

1 paper

NM_003972.3

p.L684F

c.2052G>T

1 paper

NM_003972.3

p.M680V

c.2038A>G

1 paper

NM_003972.3

p.R676Q

c.2027G>A