Varaico: Literature-Extracted Genetic Variants

POLR1C

134 papers

RefSeq Summary

The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associate...

Pfam Domains

RNA_pol_Laa 62–307UCSCRNA polymerase Rpb3/Rpb11 dimerisation domain

RNA_pol_A_bacaa 92–235UCSCRNA polymerase Rpb3/RpoA insert domain

Gene Aliases

HGNC Name

RNA polymerase I and III subunit C

HGNC Alias Symbols

RPA40; RPA39; RPA5; RPAC1; AC40; RPC40

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_203290.4

p.I262T

c.785T>C

Surrounding Variants

1 paper

NM_203290.4

p.G269R

c.805G>C

1 paper

NM_203290.4

p.E252K

c.754G>A

2 papers

NM_203290.4

p.A249T

c.745G>A

7 papers

NM_203290.4

p.V245M

c.733G>A

5 papers

NM_203290.4

p.D238G

c.713A>G

1 paper

NM_203290.4

p.R234fs

c.700_701fs

4 papers

NM_203290.4

p.Y233*

c.699C>A

1 paper

NM_203290.4

p.R234insFs

c.700_701insTA

4 papers

NM_203290.4

p.Y233*

c.699C>G

1 paper

NM_203290.4

p.Y233ins1

c.698_699insAAG

4 papers

NM_203290.4

p.Y233insFs

c.698_699insAA

3 papers

NM_203290.4

p.Y233fs

c.697_698fs