Varaico: Literature-Extracted Genetic Variants

Gene:TAF1A
Variant:p.L84S

TAF1A

109 papers

RefSeq Summary

This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RN...

Pfam Domains

TAF1_subAaa 63–423UCSCTAF RNA Polymerase I subunit A

Gene Aliases

HGNC Name

TATA-box binding protein associated factor, RNA polymerase I subunit A

HGNC Alias Symbols

TAFI48; SL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_005681.4
p.L84S
c.251T>C
Surrounding Variants
1 paper
NM_005681.4
p.F81S
c.242T>C
1 paper
NM_005681.4
p.Q93*
c.277C>T
1 paper
NM_005681.4
p.T54R
c.161C>G
1 paper
NM_005681.4
p.Q52R
c.155A>G
1 paper
NM_005681.4
p.K45K
c.135A>G
1 paper
NM_005681.4
p.G43V
c.128G>T
1 paper
NM_005681.4
p.G43R
c.127G>C
1 paper
NM_005681.4
p.G43R
c.127G>A
1 paper
NM_005681.4
p.I42S
c.125T>G
1 paper
NM_005681.4
p.V40V
c.120G>A
1 paper
NM_005681.4
p.T39T
c.117T>C
1 paper
NM_005681.4
p.Y36fs
c.106_107fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."