Varaico: Literature-Extracted Genetic Variants

Gene:TAF1L
Variant:p.I100V

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.I100V
c.298A>G
Surrounding Variants
1 paper
NM_153809.2
p.D96Y
c.286G>T
1 paper
NM_153809.2
p.A106T
c.316G>A
2 papers
NM_153809.2
p.G90D
c.269G>A
1 paper
NM_153809.2
p.T81M
c.242C>T
1 paper
NM_153809.2
p.T81R
c.242C>G
1 paper
NM_153809.2
p.T81K
c.242C>A
1 paper
NM_153809.2
p.Q121R
c.362A>G
1 paper
NM_153809.2
p.Q121P
c.362A>C
1 paper
NM_153809.2
p.H123Y
c.367C>T
1 paper
NM_153809.2
p.T126M
c.377C>T
1 paper
NM_153809.2
p.G69V
c.206G>T
1 paper
NM_153809.2
p.G69W
c.205G>T
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