Varaico: Literature-Extracted Genetic Variants

Gene:TAF1L
Variant:p.P1266R

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
3 papers
NM_153809.2
p.P1266R
c.3797C>G
Surrounding Variants
1 paper
NM_153809.2
p.E1267ins2
c.3800_3801ins6
1 paper
NM_153809.2
p.K1259T
c.3776A>C
1 paper
NM_153809.2
p.E1258K
c.3772G>A
1 paper
NM_153809.2
p.K1274K
c.3822A>G
1 paper
NM_153809.2
p.R1252Q
c.3755G>A
1 paper
NM_153809.2
p.R1252W
c.3754C>T
1 paper
NM_153809.2
p.Q1247*
c.3739C>T
1 paper
NM_153809.2
p.C1286Y
c.3857G>A
1 paper
NM_153809.2
p.G1287D
c.3860G>A
1 paper
NM_153809.2
p.R1244R
c.3732G>T
1 paper
NM_153809.2
p.R1244Q
c.3731G>A
1 paper
NM_153809.2
p.R1244W
c.3730C>T
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