Varaico: Literature-Extracted Genetic Variants

Gene:TAF1L
Variant:p.K257N

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.K257N
c.771A>T
Surrounding Variants
1 paper
NM_153809.2
p.K257N
c.771A>C
1 paper
NM_153809.2
p.R260C
c.778C>T
1 paper
NM_153809.2
p.R260S
c.778C>A
1 paper
NM_153809.2
p.P255fs
c.763_764fs
1 paper
NM_153809.2
p.G266E
c.797G>A
1 paper
NM_153809.2
p.L249I
c.745C>A
1 paper
NM_153809.2
p.V274A
c.821T>C
1 paper
NM_153809.2
p.V274D
c.821T>A
1 paper
NM_153809.2
p.W275S
c.824G>C
1 paper
NM_153809.2
p.S277N
c.830G>A
1 paper
NM_153809.2
p.R279Q
c.836G>A
1 paper
NM_153809.2
p.R282W
c.844A>T
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