Varaico: Literature-Extracted Genetic Variants

Gene:POLR3H
Variant:p.E112fs

POLR3H

68 papers

Pfam Domains

SHS2_Rpb7-Naa 8–64UCSCSHS2 domain found in N terminus of Rpb7p/Rpc25p/MJ0397
RNA_pol_Rbc25aa 83–201UCSCRNA polymerase III subunit Rpc25

Gene Aliases

HGNC Name

RNA polymerase III subunit H

HGNC Alias Symbols

RPC8; KIAA1665; C25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001018050.4
p.E112fs
c.334_335fs
Surrounding Variants
1 paper
NM_001018050.4
p.E112ins6
c.335_336ins18
1 paper
NM_001018050.4
p.E112ins7
c.335_336ins21
1 paper
NM_001018050.4
p.P111insFs
c.332dupC
1 paper
NM_001018050.4
p.Q116R
c.347A>G
1 paper
NM_001018050.4
p.F120Splc
c.359+13G>T
1 paper
NM_001018050.4
p.V99I
c.295G>A
1 paper
NM_001018050.4
p.V99Splc
c.295+1G>T
1 paper
NM_001018050.4
p.V99Splc
c.295+1G>A
1 paper
NM_001018050.4
p.V99I
c.295G>A
2 papers
NM_001018050.4
p.P94S
c.280C>T
2 papers
NM_001018050.4
p.C92*
c.276C>A
1 paper
NM_001018050.4
p.G91A
c.272G>C
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