Varaico: Literature-Extracted Genetic Variants

Gene:POLR3K
Variant:p.E67Splc

POLR3K

125 papers

RefSeq Summary

This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subu...

Pfam Domains

Zn_ribbon_RPB9aa 2–37UCSCRNA polymerases M/15 Kd subunit
Zn_ribbon_TFIISaa 67–107UCSCTranscription factor S-II (TFIIS)

Gene Aliases

HGNC Name

RNA polymerase III subunit K

HGNC Alias Symbols

RPC11; C11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016310.5
p.E67Splc
c.200-1G>A
Surrounding Variants
1 paper
NM_016310.5
p.E67fs
c.199_200fs
1 paper
NM_016310.5
p.S68A
c.202T>G
1 paper
NM_016310.5
p.C72F
c.215G>T
1 paper
NM_016310.5
p.H74R
c.221A>G
1 paper
NM_016310.5
p.P75L
c.224C>T
1 paper
NM_016310.5
p.F79insFs
c.236_237ins7
1 paper
NM_016310.5
p.L82P
c.245T>C
1 paper
NM_016310.5
p.R85H
c.254G>A
1 paper
NM_016310.5
p.P90P
c.270G>C
1 paper
NM_016310.5
p.F94I
c.280T>A
1 paper
NM_016310.5
p.K96*
c.286A>T
1 paper
NM_016310.5
p.C97Y
c.290G>A
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