Varaico: Literature-Extracted Genetic Variants

Gene:POLR3C
Variant:p.I470F

POLR3C

107 papers

Pfam Domains

HTH_9aa 7–68UCSCRNA polymerase III subunit RPC82 helix-turn-helix domain
RNA_pol_Rpc82aa 146–345UCSCRNA polymerase III subunit RPC82
WHD_POLR3Caa 350–426UCSCPOLR3C, C-terminal winged-helix domain
RPC3_helicalaa 459–522UCSCDNA-directed RNA polymerase III subunit RPC3, helical hairpin domain

Gene Aliases

HGNC Name

RNA polymerase III subunit C

HGNC Alias Symbols

RPC62; RPC3; C82

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006468.8
p.I470F
c.1408A>T
Surrounding Variants
1 paper
NM_006468.8
p.M474V
c.1420A>G
1 paper
NM_006468.8
p.R496C
c.1486C>T
2 papers
NM_006468.8
p.R504H
c.1511G>A
4 papers
NM_006468.8
p.R438G
c.1312A>G
1 paper
NM_006468.8
p.K508Splc
c.1524-140T>C
1 paper
NM_006468.8
p.A511fs
c.1531_1532fs
2 papers
NM_006468.8
p.A511delFs
c.1533delC
1 paper
NM_006468.8
p.S512fs
c.1534_1535fs
2 papers
NM_001303456.1
p.I533F
c.1597A>T
NM_006468.8
p.I520F
c.1558A>T
3 papers
NM_006468.8
p.R533*
c.1597A>T
1 paper
NM_006468.8
p.E401K
c.1201G>A
1 paper
NM_006468.8
p.K389E
c.1165A>G
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