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

4 papers

NM_203290.4

p.T27A

c.79A>G

Surrounding Variants

1 paper

NM_203290.4

p.T27N

c.80C>A

11 papers

NM_203290.4

p.T26I

c.77C>T

3 papers

NM_203290.4

p.F29delFs

c.87delT

7 papers

NM_203290.4

p.P30S

c.88C>T

1 paper

NM_203290.4

p.V24fs

c.70_71fs

3 papers

NM_203290.4

p.N23_V24Splc

c.70-1G>A

2 papers

NM_203290.4

p.G31fs

c.91_92fs

15 papers

NM_203290.4

p.N32I

c.95A>T

3 papers

NM_203290.4

p.Y33C

c.98A>G

1 paper

NM_203290.4

p.A39V

c.116C>T

2 papers

NM_203290.4

p.W40G

c.118T>G

1 paper

NM_203290.4

p.D41N

c.121G>A