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.L103fs

c.307_308fs

Surrounding Variants

1 paper

NM_015972.4

p.N105Y

c.313A>T

1 paper

NM_015972.4

p.E102_N105delFs

c.306_313del8

2 papers

NM_015972.4

p.L100P

c.299T>C

4 papers

NM_015972.4

p.G99S

c.295G>A

4 papers

NM_015972.4

p.G99R

c.295G>C

1 paper

NM_015972.4

p.G99fs

c.295_296fs

2 papers

NM_015972.4

p.G99fs

c.295_296fs

1 paper

NM_015972.4

p.Q97H

c.291G>C

1 paper

NM_015972.4

p.H109Y

c.325C>T

2 papers

NM_015972.4

p.Q97delFs

c.290_291delAG

1 paper

NM_015972.4

p.H109delFs

c.326_327delAT

2 papers

NM_015972.4

p.H109fs

c.325_326fs