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

1–12 of 113 variants

21 papers

NM_203290.4

p.R279Q

c.836G>A

16 papers

NM_203290.4

p.N74S

c.221A>G

16 papers

NM_203290.4

p.R279W

c.835C>T

15 papers

NM_203290.4

p.N32I

c.95A>T

11 papers

NM_203290.4

p.T26I

c.77C>T

11 papers

NM_203290.4

p.R109H

c.326G>A

10 papers

NM_203290.4

p.M65V

c.193A>G

9 papers

NM_203290.4

p.G132D

c.395G>A

9 papers

NM_203290.4

p.C146R

c.436T>C

9 papers

NM_203290.4

p.I262T

c.785T>C

9 papers

NM_203290.4

p.K295del1

c.883_885delAAG

9 papers

NM_203290.4

p.E324K

c.970G>A