Varaico: Literature-Extracted Genetic Variants

Gene:TAF1L
Variant:p.S1663P

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.S1663P
c.4987T>C
Surrounding Variants
1 paper
NM_153809.2
p.M1668L
c.5002A>T
1 paper
NM_153809.2
p.M1668L
c.5002A>C
1 paper
NM_153809.2
p.P1655Q
c.4964C>A
2 papers
NM_153809.2
p.P1655S
c.4963C>T
1 paper
NM_153809.2
p.S1682F
c.5045C>T
1 paper
NM_153809.2
p.D1636D
c.4908T>C
1 paper
NM_153809.2
p.A1698V
c.5093C>T
1 paper
NM_153809.2
p.K1702R
c.5105A>G
1 paper
NM_153809.2
p.K1702K
c.5106A>G
1 paper
NM_153809.2
p.S1716T
c.5146T>A
1 paper
NM_153809.2
p.T1609I
c.4826C>T
1 paper
NM_153809.2
p.E1605Q
c.4813G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."