Varaico: Literature-Extracted Genetic Variants

Gene:GTF3C1
Variant:p.K147N

GTF3C1

114 papers

Pfam Domains

WHD_GTF3C1_Naa 1–162UCSCGeneral transcription factor 3C polypeptide 1, winged-helix domain
B-block_TFIIICaa 174–250UCSCB-block binding subunit of TFIIIC
WHD_GTF3C1aa 609–718UCSCGTF3C1, extended winged-helix domain

Gene Aliases

HGNC Name

general transcription factor IIIC subunit 1

HGNC Alias Symbol

TFIIIC220

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001520.4
p.K147N
c.441G>T
Surrounding Variants
1 paper
NM_001520.4
p.K147N
c.441G>C
1 paper
NM_001520.4
p.E182D
c.546A>T
1 paper
NM_001520.4
p.E182D
c.546A>C
1 paper
NM_001520.4
p.R183W
c.547C>T
1 paper
NM_001520.4
p.R188K
c.563G>A
1 paper
NM_001520.4
p.T200A
c.598A>G
1 paper
NM_001520.4
p.L216F
c.648G>T
1 paper
NM_001520.4
p.L216F
c.648G>C
1 paper
NM_001520.4
p.R246Q
c.737G>A
1 paper
NM_001520.4
p.Y255delFs
c.764_765delGT
1 paper
NM_001520.4
p.G112fs
c.334_335fs
1 paper
NM_001520.4
p.Y296H
c.886T>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."