Varaico: Literature-Extracted Genetic Variants

Gene:TAF1L
Variant:p.V1048A

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.V1048A
c.3143T>C
Surrounding Variants
1 paper
NM_153809.2
p.R1049C
c.3145C>T
2 papers
NM_153809.2
p.R1049H
c.3146G>A
1 paper
NM_153809.2
p.D1046H
c.3136G>C
1 paper
NM_153809.2
p.E1043E
c.3129A>G
1 paper
NM_153809.2
p.T1053I
c.3158C>T
1 paper
NM_153809.2
p.A1056V
c.3167C>T
1 paper
NM_153809.2
p.K1038T
c.3113A>C
1 paper
NM_153809.2
p.N1021fs
c.3061_3062fs
1 paper
NM_153809.2
p.N1021delFs
c.3062delT
1 paper
NM_153809.2
p.H1077R
c.3230A>G
1 paper
NM_153809.2
p.R1016H
c.3047G>A
2 papers
NM_153809.2
p.R1016C
c.3046C>T
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