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

1 paper

NM_015972.4

p.H74insFs

c.220dupC

Surrounding Variants

2 papers

NM_015972.4

p.H74R

c.221A>G

3 papers

NM_015972.4

p.T71I

c.212C>T

3 papers

NM_015972.4

p.S78delFs

c.232_233delAG

1 paper

NM_015972.4

p.G69S

c.205G>A

3 papers

NM_015972.4

p.C68W

c.204T>G

2 papers

NM_015972.4

p.S78fs

c.232_233fs

1 paper

NM_015972.4

p.K79N

c.237A>C

1 paper

NM_015972.4

p.K79N

c.237A>T

4 papers

NM_015972.4

p.L82S

c.245T>C

3 papers

NM_015972.4

p.P63fs

c.187_188fs

1 paper

NM_015972.4

p.N62K

c.186C>A

1 paper

NM_015972.4

p.N62K

c.186C>G