Varaico: Literature-Extracted Genetic Variants

Gene:TAF1L
Variant:p.F683delFs

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.F683delFs
c.2049delA
Surrounding Variants
1 paper
NM_153809.2
p.F683fs
c.2047_2048fs
1 paper
NM_153809.2
p.F683C
c.2048T>G
1 paper
NM_153809.2
p.R685C
c.2053C>T
3 papers
NM_153809.2
p.R685H
c.2054G>A
2 papers
NM_153809.2
p.L681M
c.2041T>A
1 paper
NM_153809.2
p.Q688*
c.2062C>T
4 papers
NM_153809.2
p.K665fs
c.1993_1994fs
1 paper
NM_153809.2
p.K665_A666insFs
c.1995_1996insA
2 papers
NM_153809.2
p.K665delFs
c.1994delT
2 papers
NM_153809.2
p.K665fs
c.1993_1994fs
1 paper
NM_153809.2
p.K663fs
c.1987_1988fs
1 paper
NM_153809.2
p.I662V
c.1984A>G
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