Varaico: Literature-Extracted Genetic Variants

Gene:POLR3A
Variant:p.K864R

POLR3A

548 papers

RefSeq Summary

The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate i...

Pfam Domains

RNA_pol_Rpb1_1aa 12–356UCSCRNA polymerase Rpb1, domain 1
RNA_pol_Rpb1_2aa 358–525UCSCRNA polymerase Rpb1, domain 2
RNA_pol_Rpb1_3aa 528–703UCSCRNA polymerase Rpb1, domain 3
RNA_pol_Rpb1_4aa 728–834UCSCRNA polymerase Rpb1, domain 4
RNA_pol_Rpb1_5aa 841–1316UCSCRNA polymerase Rpb1, domain 5

Gene Aliases

HGNC Name

RNA polymerase III subunit A

HGNC Alias Symbols

RPC1; RPC155; hRPC155; C160

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007055.4
p.K864R
c.2591A>G
Surrounding Variants
1 paper
NM_007055.4
p.A862D
c.2585C>A
1 paper
NM_007055.4
p.T868T
c.2604G>A
1 paper
NM_007055.4
p.G869R
c.2605G>C
1 paper
NM_007055.4
p.G869R
c.2605G>A
1 paper
NM_007055.4
p.V859L
c.2575G>C
4 papers
NM_007055.4
p.M871fs
c.2611_2612fs
1 paper
NM_007055.4
p.M871L
c.2611A>T
1 paper
NM_007055.4
p.M871L
c.2611A>C
4 papers
NM_007055.4
p.M871delFs
c.2611delT
1 paper
NM_007055.4
p.M871I
c.2613G>T
1 paper
NM_007055.4
p.M871I
c.2613G>C
1 paper
NM_007055.4
p.M871I
c.2613G>A
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