Varaico: Literature-Extracted Genetic Variants

Gene:TAF1L
Variant:p.E538D

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.E538D
c.1614G>C
Surrounding Variants
1 paper
NM_153809.2
p.E538D
c.1614G>T
1 paper
NM_153809.2
p.L514F
c.1542G>T
1 paper
NM_153809.2
p.L514F
c.1542G>C
1 paper
NM_153809.2
p.L513L
c.1537C>T
1 paper
NM_153809.2
p.P571L
c.1712C>T
1 paper
NM_153809.2
p.V495E
c.1484T>A
1 paper
NM_153809.2
p.D490V
c.1469A>T
1 paper
NM_153809.2
p.I489fs
c.1465_1466fs
1 paper
NM_153809.2
p.P488delFs
c.1464delG
1 paper
NM_153809.2
p.D589N
c.1765G>A
1 paper
NM_153809.2
p.F487L
c.1459T>C
1 paper
NM_153809.2
p.R600W
c.1798C>T
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