Varaico: Literature-Extracted Genetic Variants

Gene:SFPQ
Variant:p.L535*

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.L535*
c.1604T>A
Surrounding Variants
1 paper
NM_005066.3
p.R536C
c.1606C>T
6 papers
NM_005066.3
p.L534I
c.1600C>A
1 paper
NM_005066.3
p.N533D
c.1597A>G
6 papers
NM_005066.3
p.N533H
c.1597A>C
1 paper
NM_005066.3
p.Y527C
c.1580A>G
1 paper
NM_005066.3
p.A515V
c.1544C>T
1 paper
NM_005066.3
p.A515T
c.1543G>A
1 paper
NM_005066.3
p.K513N
c.1539A>T
1 paper
NM_005066.3
p.K513N
c.1539A>C
1 paper
NM_005066.3
p.E509G
c.1526A>G
1 paper
NM_005066.3
p.Q507delFs
c.1521delT
1 paper
NM_005066.3
p.E499K
c.1495G>A
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