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

1 paper

NM_203290.4

p.K271E

c.811A>G

Surrounding Variants

1 paper

NM_203290.4

p.K270_K271insFs

c.810_811insA

2 papers

NM_203290.4

p.P278R

c.833C>G

16 papers

NM_203290.4

p.R279W

c.835C>T

21 papers

NM_203290.4

p.R279Q

c.836G>A

1 paper

NM_203290.4

p.T282S

c.844A>T

1 paper

NM_203290.4

p.T282S

c.845C>G

5 papers

NM_203290.4

p.F288S

c.863T>C

1 paper

NM_203290.4

p.R289Q

c.866G>A

9 papers

NM_203290.4

p.K295del1

c.883_885delAAG

2 papers

NM_203290.4

p.R301W

c.901C>T

1 paper

NM_203290.4

p.R301Q

c.902G>A

3 papers

NM_203290.4

p.R303Q

c.908G>A