Varaico: Literature-Extracted Genetic Variants

Gene:POLR2I
Variant:p.P3T

POLR2I

18 papers

RefSeq Summary

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DN...

Pfam Domains

Zn_ribbon_RPB9aa 14–51UCSCRNA polymerases M/15 Kd subunit
Zn_ribbon_TFIISaa 84–124UCSCTranscription factor S-II (TFIIS)

Gene Aliases

HGNC Name

RNA polymerase II subunit I

HGNC Alias Symbols

RPB9; hRPB14.5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006233.5
p.P3T
c.7C>A
Surrounding Variants
1 paper
NM_006233.5
p.A38_C39Splc
c.115-4G>T
1 paper
NM_006233.5
p.Y44*
c.132C>A
1 paper
NM_006233.5
p.Q46H
c.138G>C
1 paper
NM_006233.5
p.S51_N56delFs
c.151_166del16
1 paper
NM_006233.5
p.I58fs
c.172_173fs
1 paper
NM_006233.5
p.E61*
c.181G>T
1 paper
NM_006233.5
p.I58_D63delFs
c.173_188del16
1 paper
NM_006233.5
p.I68V
c.202A>G
1 paper
NM_006233.5
p.F96I
c.286T>A
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