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.H172R

c.515A>G

Surrounding Variants

1 paper

NM_203290.4

p.W175delFs

c.525delG

1 paper

NM_203290.4

p.I176I

c.528C>T

1 paper

NM_203290.4

p.Q181E

c.541C>G

1 paper

NM_203290.4

p.R191*

c.571C>T

7 papers

NM_203290.4

p.R191Q

c.572G>A

1 paper

NM_203290.4

p.I199L

c.595A>C

3 papers

NM_203290.4

p.I199F

c.595A>T

1 paper

NM_203290.4

p.A200T

c.598G>A

1 paper

NM_203290.4

p.Q201*

c.601C>T

1 paper

NM_203290.4

p.R203Q

c.608G>A

2 papers

NM_203290.4

p.G205delFs

c.614delG

2 papers

NM_203290.4

p.G205fs

c.613_614fs