Varaico: Literature-Extracted Genetic Variants

Gene:POLR3E
Variant:p.P594delFs

POLR3E

127 papers

Pfam Domains

RPC5aa 5–432UCSCRPC5 protein
RPC5_Caa 443–708UCSCDNA-directed RNA polymerase III subunit RPC5 C-terminal

Gene Aliases

HGNC Name

RNA polymerase III subunit E

HGNC Alias Symbols

RPC5; FLJ10509; C37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018119.4
p.P594delFs
c.1782delC
Surrounding Variants
1 paper
NM_018119.4
p.Q573Q
c.1719G>A
1 paper
NM_018119.4
p.C553*
c.1659C>A
1 paper
NM_018119.4
p.P622_F623Splc
c.1866+43T>G
1 paper
NM_018119.4
p.D543E
c.1629C>A
1 paper
NM_018119.4
p.T542A
c.1624A>G
1 paper
NM_018119.4
p.E515Q
c.1543G>C
1 paper
NM_018119.4
p.Q512E
c.1534C>G
2 papers
NM_018119.4
p.E510*
c.1528G>T
1 paper
NM_018119.4
p.E504_E511delFs
c.1512_1531del20
1 paper
NM_018119.4
p.E484K
c.1450G>A
1 paper
NM_018119.4
p.E484Q
c.1450G>C
1 paper
NM_018119.4
p.A447T
c.1339G>A
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