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.E20K

c.58G>A

Surrounding Variants

3 papers

NM_015972.4

p.E20insFs

c.60dupA

2 papers

NM_015972.4

p.A19T

c.55G>A

1 paper

NM_015972.4

p.G21fs

c.61_62fs

1 paper

NM_015972.4

p.S17P

c.49T>C

2 papers

NM_015972.4

p.A26V

c.77C>T

1 paper

NM_015972.4

p.G13fs

c.37_38fs

2 papers

NM_015972.4

p.G13_T16delFs

c.38_47del10

3 papers

NM_015972.4

p.V30insFs

c.88_89dupGT

1 paper

NM_015972.4

p.V30insFs

c.89_90insTG

3 papers

NM_015972.4

p.Q31delFs

c.91delC

8 papers

NM_015972.4

p.Q31*

c.91C>T

4 papers

NM_015972.4

p.Q31fs

c.91_92fs