Varaico: Literature-Extracted Genetic Variants

Gene:TAF1L
Variant:p.T1403M

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
4 papers
NM_153809.2
p.T1403M
c.4208C>T
Surrounding Variants
1 paper
NM_153809.2
p.T1403T
c.4209G>A
1 paper
NM_153809.2
p.M1401V
c.4201A>G
1 paper
NM_153809.2
p.D1399H
c.4195G>C
3 papers
NM_153809.2
p.R1397H
c.4190G>A
2 papers
NM_153809.2
p.R1397C
c.4189C>T
4 papers
NM_153809.2
p.R1396C
c.4186C>T
1 paper
NM_153809.2
p.R1395Q
c.4184G>A
1 paper
NM_153809.2
p.N1413I
c.4238A>T
1 paper
NM_153809.2
p.M1415I
c.4245G>T
1 paper
NM_153809.2
p.M1415I
c.4245G>C
1 paper
NM_153809.2
p.M1415I
c.4245G>A
1 paper
NM_153809.2
p.I1388M
c.4164A>G
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