Varaico: Literature-Extracted Genetic Variants

POLR3B

329 papers

RefSeq Summary

This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded pro...

Pfam Domains

RNA_pol_Rpb2_1aa 38–413UCSCRNA polymerase beta subunit

RNA_pol_Rpb2_2aa 185–363UCSCRNA polymerase Rpb2, domain 2

RNA_pol_Rpb2_3aa 438–502UCSCRNA polymerase Rpb2, domain 3

RNA_pol_Rpb2_4aa 539–600UCSCRNA polymerase Rpb2, domain 4

RNA_pol_Rpb2_5aa 621–661UCSCRNA polymerase Rpb2, domain 5

RNA_pol_Rpb2_6aa 668–1041UCSCRNA polymerase Rpb2, domain 6

Gene Aliases

HGNC Name

RNA polymerase III subunit B

HGNC Alias Symbols

RPC2; FLJ10388; C128

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018082.6

p.T707_Y710delFs

c.2121_2130del10

Surrounding Variants

1 paper

NM_018082.6

p.D706N

c.2116G>A

1 paper

NM_018082.6

p.I705V

c.2113A>G

2 papers

NM_018082.6

p.N700T

c.2099A>C

4 papers

NM_018082.6

p.G695fs

c.2083_2084fs

1 paper

NM_018082.6

p.M719I

c.2157G>A

1 paper

NM_018082.6

p.M719I

c.2157G>C

1 paper

NM_018082.6

p.M719I

c.2157G>T

2 papers

NM_018082.6

p.K721*

c.2161A>T

12 papers

NM_018082.6

p.G695Splc

c.2084-6A>G

2 papers

NM_018082.6

p.T724P

c.2170A>C

4 papers

NM_018082.6

p.L727S

c.2180T>C

1 paper

NM_018082.6

p.I728T

c.2183T>C