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.W1050R

c.3148T>C

Surrounding Variants

2 papers

NM_003972.3

p.W1050R

c.3148T>A

1 paper

NM_003972.3

p.W1050L

c.3149G>T

1 paper

NM_003972.3

p.M1053T

c.3158T>C

1 paper

NM_003972.3

p.L1057L

c.3171G>A

1 paper

NM_003972.3

p.A993A

c.2979A>G

1 paper

NM_003972.3

p.R987Q

c.2960G>A

1 paper

NM_003972.3

p.E956*

c.2866G>T

1 paper

NM_003972.3

p.Q1106*

c.3316C>T

1 paper

NM_003972.3

p.G1131G

c.3393T>G

1 paper

NM_003972.3

p.S1134R

c.3400A>C

1 paper

NM_003972.3

p.S1134R

c.3402C>A

1 paper

NM_003972.3

p.S1134R

c.3402C>G