Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.P95ins1

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.P95ins1
c.283_284insGCG
Surrounding Variants
8 papers
NM_001195427.2
p.P95S
c.283C>T
51 papers
NM_001195427.2
p.P95A
c.283C>G
3 papers
NM_001195427.2
p.P95ins1
c.283_284insGCC
43 papers
NM_001195427.2
p.P95T
c.283C>A
1 paper
NM_001195427.2
p.P95fs
c.283_284fs
252 papers
NM_001195427.2
p.P95L
c.284C>T
218 papers
NM_001195427.2
p.P95R
c.284C>G
1 paper
NM_001195427.2
p.P95insFs
c.284_285insG
8 papers
NM_001195427.2
p.R94_P95ins0
c.281_283dupGCC
1 paper
NM_001195427.2
p.R94fs
c.280_281fs
500 papers
NM_001195427.2
p.P95H
c.284C>A
1 paper
NM_001195427.2
p.R94_P95delins
c.282_284delinsGCA
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