Varaico: Literature-Extracted Genetic Variants

Gene:POLR3A
Variant:p.R1136W

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
2 papers
NM_007055.4
p.R1136W
c.3406C>T
Surrounding Variants
6 papers
NM_007055.4
p.R1136Q
c.3407G>A
1 paper
NM_007055.4
p.I1137V
c.3409A>G
1 paper
NM_007055.4
p.I1137T
c.3410T>C
1 paper
NM_007055.4
p.R1138G
c.3412A>G
1 paper
NM_007055.4
p.L1139L
c.3417T>C
7 papers
NM_007055.4
p.K1131R
c.3392A>G
1 paper
NM_007055.4
p.V1130F
c.3388G>T
6 papers
NM_007055.4
p.V1130I
c.3388G>A
1 paper
NM_007055.4
p.L1142P
c.3425T>C
5 papers
NM_007055.4
p.L1129L
c.3387C>A
1 paper
NM_007055.4
p.L1129F
c.3385C>T
1 paper
NM_007055.4
p.I1128S
c.3383T>G
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