Varaico: Literature-Extracted Genetic Variants

POLR1D

59 papers

RefSeq Summary

The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Muta...

Pfam Domains

POLR1Daa 1–27UCSCPOLR1D

POLR1Daa 1–55UCSCPOLR1D

RNA_pol_L_2aa 39–113UCSCRNA polymerase Rpb3/Rpb11 dimerisation domain

Gene Aliases

HGNC Name

RNA polymerase I and III subunit D

HGNC Alias Symbols

RPAC2; RPA16; RPO1-3; RPA9; MGC9850; AC19

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_015972.4

p.P63fs

c.187_188fs

Surrounding Variants

1 paper

NM_015972.4

p.N62K

c.186C>A

1 paper

NM_015972.4

p.N62K

c.186C>G

1 paper

NM_015972.4

p.P63delFs

c.188delC

4 papers

NM_015972.4

p.Y57*

c.171C>A

4 papers

NM_015972.4

p.Y57*

c.171C>G

3 papers

NM_015972.4

p.C68W

c.204T>G

1 paper

NM_015972.4

p.G69S

c.205G>A

5 papers

NM_015972.4

p.R56C

c.166C>T

6 papers

NM_015972.4

p.L55V

c.163C>G

3 papers

NM_015972.4

p.T71I

c.212C>T

1 paper

NM_015972.4

p.H74insFs

c.220dupC

6 papers

NM_015972.4

p.G52E

c.155G>A