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.K154fs

c.460_461fs

Surrounding Variants

5 papers

NM_203290.4

p.K154fs

c.460_461fs

6 papers

NM_203290.4

p.K154delFs

c.461_462delAA

1 paper

NM_203290.4

p.H151delFs

c.451delC

9 papers

NM_203290.4

p.C146R

c.436T>C

1 paper

NM_203290.4

p.V144insFs

c.430_431insA

2 papers

NM_203290.4

p.L142F

c.424C>T

4 papers

NM_203290.4

p.R141C

c.421C>T

3 papers

NM_203290.4

p.V168M

c.502G>A

1 paper

NM_203290.4

p.E134*

c.400G>T

9 papers

NM_203290.4

p.G132D

c.395G>A

1 paper

NM_203290.4

p.H172R

c.515A>G

1 paper

NM_203290.4

p.W175delFs

c.525delG