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.R1692Q

c.5075G>A

Surrounding Variants

1 paper

NM_003972.3

p.M1656I

c.4968G>A

1 paper

NM_003972.3

p.M1656I

c.4968G>C

1 paper

NM_003972.3

p.M1656I

c.4968G>T

1 paper

NM_003972.3

p.E1635K

c.4903G>A

1 paper

NM_003972.3

p.G1631C

c.4891G>T

1 paper

NM_003972.3

p.C1626F

c.4877G>T

1 paper

NM_003972.3

p.L1623V

c.4867C>G

1 paper

NM_003972.3

p.L1622F

c.4866G>C

1 paper

NM_003972.3

p.L1622F

c.4866G>T

1 paper

NM_003972.3

p.Q1621_L1622Splc

c.4864-9C>A

1 paper

NM_003972.3

p.H1707H

c.5121C>T

1 paper

NM_003972.3

p.L1711M

c.5131C>A