Varaico: Literature-Extracted Genetic Variants

Gene:TAF1A
Variant:p.S227C

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
1 paper
NM_005681.4
p.S227C
c.680C>G
Surrounding Variants
1 paper
NM_005681.4
p.I232fs
c.694_695fs
1 paper
NM_005681.4
p.K203T
c.608A>C
1 paper
NM_005681.4
p.R253*
c.757C>T
3 papers
NM_005681.4
p.T261P
c.781A>C
1 paper
NM_005681.4
p.Q302L
c.905A>T
1 paper
NM_005681.4
p.M196R
c.587T>G
1 paper
NM_005681.4
p.K195E
c.583A>G
1 paper
NM_005681.4
p.K194N
c.582G>T
1 paper
NM_005681.4
p.K194N
c.582G>C
1 paper
NM_005681.4
p.L186F
c.558A>T
1 paper
NM_005681.4
p.L186F
c.558A>C
1 paper
NM_005681.4
p.E173_I174insFs
c.519_520insA
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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."