Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.S54Y

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
2 papers
NM_001195427.2
p.S54Y
c.161C>A
Surrounding Variants
9 papers
NM_001195427.2
p.S54F
c.161C>T
4 papers
NM_001195427.2
p.S54A
c.160T>G
2 papers
NM_001195427.2
p.S54S
c.162C>T
1 paper
NM_001195427.2
p.R55P
c.164G>C
1 paper
NM_001195427.2
p.E53V
c.158A>T
1 paper
NM_001195427.2
p.R39_E53delFs
c.117_157del41
1 paper
NM_001195427.2
p.R55delFs
c.165delG
3 papers
NM_001195427.2
p.K52R
c.155A>G
1 paper
NM_001195427.2
p.K52Q
c.154A>C
9 papers
NM_001195427.2
p.F57Y
c.170T>A
1 paper
NM_001195427.2
p.D48_F57delFs
c.144_169del26
2 papers
NM_001195427.2
p.T51A
c.151A>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."