Varaico: Literature-Extracted Genetic Variants

Gene:GTF3C3
Variant:p.R474G

GTF3C3

60 papers

RefSeq Summary

The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is ...

Pfam Domains

TPR_8aa 220–250UCSCTetratricopeptide repeat
TPR_8aa 456–487UCSCTetratricopeptide repeat
TPR_8aa 811–842UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

general transcription factor IIIC subunit 3

HGNC Alias Symbols

TFiiiC2-102; TFIIIC102

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012086.5
p.R474G
c.1420C>G
Surrounding Variants
3 papers
NM_012086.5
p.Y479C
c.1436A>G
1 paper
NM_012086.5
p.L485M
c.1453C>A
1 paper
NM_012086.5
p.L499V
c.1495C>G
1 paper
NM_012086.5
p.A509T
c.1525G>A
1 paper
NM_012086.5
p.R584S
c.1752G>T
1 paper
NM_012086.5
p.R584S
c.1752G>C
1 paper
NM_012086.5
p.S592L
c.1775C>T
1 paper
NM_012086.5
p.E603K
c.1807G>A
1 paper
NM_012086.5
p.D608V
c.1823A>T
5 papers
NM_012086.5
p.E464Splc
c.1390+3A>G
1 paper
NM_012086.5
p.V427F
c.1279G>T
1 paper
NM_012086.5
p.L423P
c.1268T>C
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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."