Varaico: Literature-Extracted Genetic Variants

TAF1L

191 papers

RefSeq Summary

This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ c...

Pfam Domains

TBP-bindingaa 22–85UCSCTATA box-binding protein binding

DUF3591aa 584–1047UCSCProtein of unknown function (DUF3591)

zf-CCHC_6aa 1280–1321UCSCZinc knuckle

Bromodomainaa 1408–1491UCSCBromodomain

Bromodomainaa 1529–1614UCSCBromodomain

Gene Aliases

HGNC Name

TATA-box binding protein associated factor 1 like

HGNC Previous Names

TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa; TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_153809.2

p.R1584W

c.4750C>T