Varaico: Literature-Extracted Genetic Variants

Gene:TAF1L
Variant:p.H625D

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.H625D
c.1873C>G
Surrounding Variants
1 paper
NM_153809.2
p.I631L
c.1891A>C
2 papers
NM_153809.2
p.W618R
c.1852T>C
2 papers
NM_153809.2
p.W618R
c.1852T>A
1 paper
NM_153809.2
p.R632W
c.1894C>T
3 papers
NM_153809.2
p.M615V
c.1843A>G
1 paper
NM_153809.2
p.A614D
c.1841C>A
2 papers
NM_153809.2
p.R636H
c.1907G>A
1 paper
NM_153809.2
p.P637S
c.1909C>T
1 paper
NM_153809.2
p.P638S
c.1912C>T
1 paper
NM_153809.2
p.L647L
c.1941C>T
1 paper
NM_153809.2
p.R600W
c.1798C>T
1 paper
NM_153809.2
p.L659V
c.1975C>G
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