Varaico: Literature-Extracted Genetic Variants

Gene:SFPQ
Variant:p.P99R

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.P99R
c.296C>G
Surrounding Variants
1 paper
NM_005066.3
p.Q98Q
c.294G>A
1 paper
NM_005066.3
p.Q98L
c.293A>T
1 paper
NM_005066.3
p.Q98P
c.293A>C
1 paper
NM_005066.3
p.P100P
c.300G>A
1 paper
NM_005066.3
p.P93_Q97del0
c.278_289del12
1 paper
NM_005066.3
p.Q95_P102del0
c.284_304del21
1 paper
NM_005066.3
p.Q96ins3
c.286_287ins9
1 paper
NM_005066.3
p.H94_Q95ins0
c.281_283dupATC
1 paper
NM_005066.3
p.Q95ins5
c.283_284ins15
1 paper
NM_005066.3
p.Q95_P103del0
c.284_307del24
2 papers
NM_005066.3
p.Q95L
c.284A>T
1 paper
NM_005066.3
p.Q92R
c.275A>G
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