Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.R118G

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.R118G
c.352C>G
Surrounding Variants
3 papers
NM_001195427.2
p.R117H
c.350G>A
2 papers
NM_001195427.2
p.S119N
c.356G>A
1 paper
NM_001195427.2
p.G116delFs
c.346_347delCC
1 paper
NM_001195427.2
p.Y115*
c.345C>A
1 paper
NM_001195427.2
p.S121G
c.361A>G
1 paper
NM_001195427.2
p.G114V
c.341G>T
2 papers
NM_001195427.2
p.G114A
c.341G>C
1 paper
NM_001195427.2
p.S121Splc
c.362+1G>A
1 paper
NM_001195427.2
p.G114D
c.341G>A
1 paper
NM_001195427.2
p.G114R
c.340G>C
1 paper
NM_001195427.2
p.G113D
c.338G>A
1 paper
NM_001195427.2
p.G113S
c.337G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."