Varaico: Literature-Extracted Genetic Variants

Gene:POLR3A
Variant:p.G621D

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
3 papers
NM_007055.4
p.G621D
c.1862G>A
Surrounding Variants
1 paper
NM_007055.4
p.K620delFs
c.1859delT
1 paper
NM_007055.4
p.R618Q
c.1853G>A
1 paper
NM_007055.4
p.R618*
c.1852C>T
2 papers
NM_007055.4
p.L617P
c.1850T>C
1 paper
NM_007055.4
p.G626S
c.1876G>A
1 paper
NM_007055.4
p.N616T
c.1847A>C
1 paper
NM_007055.4
p.G628W
c.1882G>T
1 paper
NM_007055.4
p.G628R
c.1882G>C
1 paper
NM_007055.4
p.G628R
c.1882G>A
1 paper
NM_007055.4
p.N611I
c.1832A>T
4 papers
NM_007055.4
p.C632F
c.1895G>T
1 paper
NM_007055.4
p.C632Y
c.1895G>A
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