Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.V18L

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
4 papers
NM_001195427.2
p.V18L
c.52G>T
Surrounding Variants
4 papers
NM_001195427.2
p.V18L
c.52G>C
1 paper
NM_001195427.2
p.K17delins
c.50_51delinsTT
1 paper
NM_001195427.2
p.K17R
c.50A>G
1 paper
NM_001195427.2
p.L16F
c.46C>T
1 paper
NM_001195427.2
p.N20I
c.59A>T
1 paper
NM_001195427.2
p.L21P
c.62T>C
1 paper
NM_001195427.2
p.L21insFs
c.62dupT
1 paper
NM_001195427.2
p.T14A
c.40A>G
2 papers
NM_001195427.2
p.M13I
c.39G>T
2 papers
NM_001195427.2
p.M13I
c.39G>C
2 papers
NM_001195427.2
p.M13I
c.39G>A
1 paper
NM_001195427.2
p.G12delFs
c.35delC
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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."