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.G1131G

c.3393T>G

Surrounding Variants

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

1 paper

NM_003972.3

p.L1146_V1149delFs

c.3438_3445del8

1 paper

NM_003972.3

p.W1152S

c.3455G>C

1 paper

NM_003972.3

p.G1154E

c.3461G>A

1 paper

NM_003972.3

p.I1156I

c.3468T>C

1 paper

NM_003972.3

p.Q1106*

c.3316C>T

1 paper

NM_003972.3

p.D1158E

c.3474C>A

1 paper

NM_003972.3

p.D1158E

c.3474C>G

1 paper

NM_003972.3

p.C1171Splc

c.3511+84T>C

1 paper

NM_003972.3

p.T1207M

c.3620C>T