Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.G12D

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.G12D
c.35G>A
Surrounding Variants
3 papers
NM_001195427.2
p.G12V
c.35G>T
3 papers
NM_001195427.2
p.G12A
c.35G>C
1 paper
NM_001195427.2
p.G12delFs
c.35delC
4 papers
NM_001195427.2
p.G12C
c.34G>T
3 papers
NM_001195427.2
p.G12R
c.34G>C
3 papers
NM_001195427.2
p.G12S
c.34G>A
1 paper
NM_001195427.2
p.E11G
c.32A>G
1 paper
NM_001195427.2
p.E11A
c.32A>C
1 paper
NM_001195427.2
p.E11insFs
c.32_33insT
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
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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."