Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.S2R

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.S2R
c.4A>C
Surrounding Variants
2 papers
NM_001195427.2
p.S2fs
c.4_5fs
1 paper
NM_001195427.2
p.S2G
c.4A>G
2 papers
NM_001195427.2
p.S2I
c.5G>T
2 papers
NM_001195427.2
p.M1I
c.3G>T
1 paper
NM_001195427.2
p.M1insFs
c.2dupT
1 paper
NM_001195427.2
p.M1_S2insFs
c.3_4insA
3 papers
NM_001195427.2
p.M1I
c.3G>C
4 papers
NM_001195427.2
p.M1I
c.3G>A
1 paper
NM_001195427.2
p.S2N
c.5G>A
1 paper
NM_001195427.2
p.M1R
c.2T>G
1 paper
NM_001195427.2
p.S2S
c.6C>T
2 papers
NM_001195427.2
p.S2R
c.6C>G
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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."