Varaico: Literature-Extracted Genetic Variants

Gene:TAF1L

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
1–12 of 312 variants
6 papers
NM_153809.2
p.A1002P
c.3004G>C
4 papers
NM_153809.2
p.K665fs
c.1993_1994fs
4 papers
NM_153809.2
p.R1396C
c.4186C>T
4 papers
NM_153809.2
p.T1403M
c.4208C>T
3 papers
NM_153809.2
p.M615V
c.1843A>G
3 papers
NM_153809.2
p.R685H
c.2054G>A
3 papers
NM_153809.2
p.P1266R
c.3797C>G
3 papers
NM_153809.2
p.R1397H
c.4190G>A
3 papers
NM_153809.2
p.R1450H
c.4349G>A
2 papers
NM_153809.2
p.G90D
c.269G>A
2 papers
NM_153809.2
p.G163E
c.488G>A
2 papers
NM_153809.2
p.P230L
c.689C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."