Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.S98_H99del2

SRSF2

1,104 papers

RefSeq Summary

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recog...

Pfam Domains

RRM_1aa 16–86UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 2

HGNC Previous Symbol

SFRS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001195427.2
p.S98_H99del2
c.292_296del6
Surrounding Variants
1 paper
NM_001195427.2
p.H100Y
c.298C>T
4 papers
NM_001195427.2
p.Y92_H99del0
c.274_297del24
1 paper
NM_001195427.2
p.H99L
c.296A>T
1 paper
NM_001195427.2
p.D97_H99delFs
c.289_295del7
1 paper
NM_001195427.2
p.R94_S98del5
c.280_293del15
1 paper
NM_001195427.2
p.H99Y
c.295C>T
1 paper
NM_001195427.2
p.H99N
c.295C>A
1 paper
NM_001195427.2
p.D97_S98del0
c.289_294del6
1 paper
NM_001195427.2
p.S101G
c.301A>G
1 paper
NM_001195427.2
p.S98_H100del3
c.292_299del9
1 paper
NM_001195427.2
p.P95_H100del0
c.283_300del18
4 papers
NM_001195427.2
p.G93_H100del0
c.277_300del24
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