Varaico: Literature-Extracted Genetic Variants

Gene:CPSF2
Variant:p.R228*

CPSF2

47 papers

Pfam Domains

Lactamase_B_6aa 22–199UCSCMetallo-beta-lactamase superfamily domain
Beta-Caspaa 243–368UCSCBeta-Casp domain
RMMBLaa 528–591UCSCZn-dependent metallo-hydrolase RNA specificity domain
CPSF100_Caa 608–779UCSCCleavage and polyadenylation factor 2 C-terminal

Gene Aliases

HGNC Name

cleavage and polyadenylation specific factor 2

HGNC Alias Symbols

KIAA1367; CPSF100

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017437.3
p.R228*
c.682C>T
Surrounding Variants
1 paper
NM_017437.3
p.R228Q
c.683G>A
1 paper
NM_017437.3
p.S282P
c.844T>C
1 paper
NM_017437.3
p.W286*
c.857G>A
1 paper
NM_017437.3
p.P302L
c.905C>T
1 paper
NM_017437.3
p.Q347*
c.1039C>T
1 paper
NM_017437.3
p.R215T
c.644G>C
2 papers
NM_017437.3
p.Q209Q
c.627G>A
1 paper
NM_017437.3
p.V208I
c.622G>A
1 paper
NM_017437.3
p.V208L
c.622G>T
1 paper
NM_017437.3
p.A205T
c.613G>A
1 paper
NM_017437.3
p.F176I
c.526T>A
1 paper
NM_017437.3
p.E169del1
c.505_507delGAA
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