Varaico: Literature-Extracted Genetic Variants

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.M680T

c.2039T>C

Surrounding Variants

1 paper

NM_007055.4

p.A679A

c.2037C>T

3 papers

NM_007055.4

p.R682W

c.2044C>T

5 papers

NM_007055.4

p.R682Q

c.2045G>A

1 paper

NM_007055.4

p.A676fs

c.2026_2027fs

2 papers

NM_007055.4

p.A684P

c.2050G>C

1 paper

NM_007055.4

p.E675delFs

c.2025delT

1 paper

NM_007055.4

p.R685S

c.2055G>T

1 paper

NM_007055.4

p.R685S

c.2055G>C

1 paper

NM_007055.4

p.E675Q

c.2023G>C

1 paper

NM_007055.4

p.P688S

c.2062C>T

28 papers

NM_007055.4

p.G672E

c.2015G>A

8 papers

NM_007055.4

p.W671R

c.2011T>C