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.R247R

c.739C>A

Surrounding Variants

1 paper

NM_003972.3

p.R247Q

c.740G>A

1 paper

NM_003972.3

p.K248_I249insC

c.742_746ins3

1 paper

NM_003972.3

p.S273Y

c.818C>A

1 paper

NM_003972.3

p.S273C

c.818C>G

1 paper

NM_003972.3

p.E288E

c.864A>G

1 paper

NM_003972.3

p.E300_V301Splc

c.901-356C>A

1 paper

NM_003972.3

p.R302*

c.904C>T

1 paper

NM_003972.3

p.F200del1

c.598_599delTTT

1 paper

NM_003972.3

p.E199_F200del1

c.597_599delGTT

1 paper

NM_003972.3

p.Q336R

c.1007A>G

1 paper

NM_003972.3

p.R345K

c.1034G>A

1 paper

NM_003972.3

p.E362G

c.1085A>G