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

1–12 of 70 variants

8 papers

NM_015972.4

p.Q31*

c.91C>T

8 papers

NM_015972.4

p.R87*

c.259C>T

7 papers

NM_015972.4

p.E47K

c.139G>A

6 papers

NM_015972.4

p.L51R

c.152T>G

6 papers

NM_015972.4

p.G52E

c.155G>A

6 papers

NM_015972.4

p.L55V

c.163C>G

5 papers

NM_015972.4

p.E46*

c.136G>T

5 papers

NM_015972.4

p.T50I

c.149C>T

5 papers

NM_015972.4

p.R56C

c.166C>T

4 papers

NM_015972.4

p.Q31fs

c.91_92fs

4 papers

NM_015972.4

p.R37insFs

c.109dupA

4 papers

NM_015972.4

p.Y57*

c.171C>A