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.K79N

c.237A>T

Surrounding Variants

1 paper

NM_015972.4

p.K79N

c.237A>C

2 papers

NM_015972.4

p.S78fs

c.232_233fs

4 papers

NM_015972.4

p.L82S

c.245T>C

3 papers

NM_015972.4

p.S78delFs

c.232_233delAG

1 paper

NM_015972.4

p.I84N

c.251T>A

2 papers

NM_015972.4

p.H74R

c.221A>G

1 paper

NM_015972.4

p.H74insFs

c.220dupC

8 papers

NM_015972.4

p.R87*

c.259C>T

1 paper

NM_015972.4

p.G88_A92del0

c.263_274del12

3 papers

NM_015972.4

p.G88insFs

c.263dupG

3 papers

NM_015972.4

p.T71I

c.212C>T

2 papers

NM_015972.4

p.G88_T89insTG

c.262_266ins6