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.R534Q

c.1601G>A

Surrounding Variants

1 paper

NM_003972.3

p.A536A

c.1608A>G

1 paper

NM_003972.3

p.A537S

c.1609G>T

1 paper

NM_003972.3

p.V519A

c.1556T>C

1 paper

NM_003972.3

p.V517F

c.1549G>T

1 paper

NM_003972.3

p.N491fs

c.1471_1472fs

1 paper

NM_003972.3

p.N491delFs

c.1472delA

1 paper

NM_003972.3

p.L481L

c.1443G>T

2 papers

NM_003972.3

p.R434G

c.1300A>G

1 paper

NM_003972.3

p.R406T

c.1217G>C

1 paper

NM_003972.3

p.Q402K

c.1204C>A

1 paper

NM_003972.3

p.E362G

c.1085A>G

1 paper

NM_003972.3

p.R345K

c.1034G>A