Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.H99L

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.H99L
c.296A>T
Surrounding Variants
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.H100Y
c.298C>T
1 paper
NM_001195427.2
p.S98_H99del2
c.292_296del6
4 papers
NM_001195427.2
p.Y92_H99del0
c.274_297del24
1 paper
NM_001195427.2
p.D97_S98del1
c.290_292delAGT
1 paper
NM_001195427.2
p.R94_S98del0
c.281_292del12
1 paper
NM_001195427.2
p.D97del1
c.289_290delGTC
1 paper
NM_001195427.2
p.P95_D97delFs
c.284_291del8
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."