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.Q1570_A1571Splc

c.4710+1092C>T

Surrounding Variants

1 paper

NM_003972.3

p.T1565P

c.4693A>C

1 paper

NM_003972.3

p.H1590L

c.4769A>T

1 paper

NM_003972.3

p.A1613S

c.4837G>T

1 paper

NM_003972.3

p.S1617L

c.4850C>T

1 paper

NM_003972.3

p.L1501_R1502insFs

c.4503_4504ins11

1 paper

NM_003972.3

p.L1501fs

c.4501_4502fs

1 paper

NM_003972.3

p.R1459L

c.4376G>T

2 papers

NM_003972.3

p.P1435T

c.4303C>A

1 paper

NM_003972.3

p.K1421E

c.4261A>G

1 paper

NM_003972.3

p.D1404N

c.4210G>A

1 paper

NM_003972.3

p.Q1370*

c.4108C>T

1 paper

NM_003972.3

p.Q1621_L1622Splc

c.4864-9C>A