Varaico: Literature-Extracted Genetic Variants

Gene:SFPQ
Variant:p.P78L

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.P78L
c.233C>T
Surrounding Variants
1 paper
NM_005066.3
p.P77S
c.229C>T
1 paper
NM_005066.3
p.P77_P82del0
c.231_245del15
1 paper
NM_005066.3
p.P73A
c.217C>G
1 paper
NM_005066.3
p.P72S
c.214C>T
1 paper
NM_005066.3
p.H85Q
c.255T>G
1 paper
NM_005066.3
p.H85Q
c.255T>A
1 paper
NM_005066.3
p.Q80_H85del0
c.240_254del15
1 paper
NM_005066.3
p.H90N
c.268C>A
1 paper
NM_005066.3
p.Q92R
c.275A>G
2 papers
NM_005066.3
p.Q95L
c.284A>T
1 paper
NM_005066.3
p.H94_Q95ins0
c.281_283dupATC
1 paper
NM_005066.3
p.Q95ins5
c.283_284ins15
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