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.R50H

c.149G>A

Surrounding Variants

2 papers

NM_203290.4

p.M56K

c.167T>A

1 paper

NM_203290.4

p.N59S

c.176A>G

10 papers

NM_203290.4

p.M65V

c.193A>G

2 papers

NM_203290.4

p.D69Y

c.205G>T

16 papers

NM_203290.4

p.N74S

c.221A>G

1 paper

NM_203290.4

p.R78Q

c.233G>A

2 papers

NM_203290.4

p.L81P

c.242T>C

8 papers

NM_203290.4

p.V94A

c.281T>C

1 paper

NM_203290.4

p.S99F

c.296C>T

1 paper

NM_203290.4

p.D103V

c.308A>T

7 papers

NM_203290.4

p.I105F

c.313A>T

8 papers

NM_203290.4

p.H108Y

c.322C>T