Varaico: Literature-Extracted Genetic Variants

Gene:SFPQ
Variant:p.R542Q

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.R542Q
c.1625G>A
Surrounding Variants
1 paper
NM_005066.3
p.Q543*
c.1627C>T
1 paper
NM_005066.3
p.M540K
c.1619T>A
1 paper
NM_005066.3
p.R547T
c.1640G>C
2 papers
NM_005066.3
p.R548C
c.1642C>T
2 papers
NM_005066.3
p.R548H
c.1643G>A
1 paper
NM_005066.3
p.R560H
c.1679G>A
1 paper
NM_005066.3
p.R566Splc
c.1697+2T>C
1 paper
NM_005066.3
p.R536C
c.1606C>T
1 paper
NM_005066.3
p.L535*
c.1604T>A
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
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