Varaico: Literature-Extracted Genetic Variants

Gene:SFPQ
Variant:p.R583C

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.R583C
c.1747C>T
Surrounding Variants
1 paper
NM_005066.3
p.R583H
c.1748G>A
1 paper
NM_005066.3
p.R581P
c.1742G>C
2 papers
NM_005066.3
p.R581C
c.1741C>T
1 paper
NM_005066.3
p.M579_I580del2
c.1735_1739del6
1 paper
NM_005066.3
p.M579_I580del1
c.1737_1739delATC
1 paper
NM_005066.3
p.M579I
c.1737G>T
1 paper
NM_005066.3
p.M579I
c.1737G>C
1 paper
NM_005066.3
p.M579I
c.1737G>A
1 paper
NM_005066.3
p.M578L
c.1732A>T
1 paper
NM_005066.3
p.M578L
c.1732A>C
1 paper
NM_005066.3
p.R591C
c.1771C>T
1 paper
NM_005066.3
p.E594K
c.1780G>A
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