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.A342delFs

c.1024_1025delGC

Surrounding Variants

1 paper

NM_203290.4

p.A342insFs

c.1024_1025insT

1 paper

NM_203290.4

p.C333F

c.998G>T

1 paper

NM_203290.4

p.V328L

c.982G>C

1 paper

NM_203290.4

p.V328L

c.982G>T

5 papers

NM_203290.4

p.K327*

c.979A>T

9 papers

NM_203290.4

p.E324K

c.970G>A

1 paper

NM_203290.4

p.D319G

c.956A>G

5 papers

NM_203290.4

p.T313M

c.938C>T

3 papers

NM_203290.4

p.S312P

c.934T>C

1 paper

NM_203290.4

p.F308Splc

c.922+1G>C

1 paper

NM_203290.4

p.Y306C

c.917A>G

5 papers

NM_203290.4

p.Y306fs

c.916_917fs