Varaico: Literature-Extracted Genetic Variants

Gene:SFPQ
Variant:p.R443C

SFPQ

199 papers

Pfam Domains

RRM_1aa 299–363UCSCRNA recognition motif
RRM_1aa 373–440UCSCRNA recognition motif
NOPSaa 444–495UCSCNOPS (NUC059) domain

Gene Aliases

HGNC Name

splicing factor proline and glutamine rich

HGNC Alias Symbols

PSF; PPP1R140

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005066.3
p.R443C
c.1327C>T
Surrounding Variants
1 paper
NM_005066.3
p.P442_R443ins4
c.1324_1328ins12
1 paper
NM_005066.3
p.E448_P449insAGC
c.1342_1346ins9
1 paper
NM_005066.3
p.P460delFs
c.1379delG
1 paper
NM_005066.3
p.Q465R
c.1394A>G
1 paper
NM_005066.3
p.M469V
c.1405A>G
2 papers
NM_005066.3
p.Y470C
c.1409A>G
1 paper
NM_005066.3
p.K472Splc
c.1415+2T>G
1 paper
NM_005066.3
p.A427T
c.1279G>A
1 paper
NM_005066.3
p.S420F
c.1259C>T
1 paper
NM_005066.3
p.S420C
c.1259C>G
1 paper
NM_005066.3
p.F418I
c.1252T>A
2 papers
NM_005066.3
p.E417*
c.1249G>T
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