Varaico: Literature-Extracted Genetic Variants

Gene:POLR3A
Variant:p.Q872_R873Splc

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
13 papers
NM_007055.4
p.Q872_R873Splc
c.2617-1G>A
Surrounding Variants
11 papers
NM_007055.4
p.R873*
c.2617C>T
2 papers
NM_007055.4
p.R873fs
c.2617_2618fs
4 papers
NM_007055.4
p.R873Q
c.2618G>A
1 paper
NM_007055.4
p.Q872_R873Splc
c.2617-6C>T
1 paper
NM_007055.4
p.L875I
c.2623C>A
1 paper
NM_007055.4
p.K877*
c.2629A>T
1 paper
NM_007055.4
p.S878fs
c.2632_2633fs
1 paper
NM_007055.4
p.K877_E880delFs
c.2631_2640del10
1 paper
NM_007055.4
p.Q885*
c.2653C>T
1 paper
NM_007055.4
p.Y886*
c.2658T>G
1 paper
NM_007055.4
p.Y886*
c.2658T>A
3 papers
NM_007055.4
p.D887V
c.2660A>T
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