Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.Y44H

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
28 papers
NM_001195427.2
p.Y44H
c.130T>C
Surrounding Variants
1 paper
NM_001195427.2
p.V43M
c.127G>A
1 paper
NM_001195427.2
p.I45V
c.133A>G
1 paper
NM_001195427.2
p.D42E
c.126C>G
1 paper
NM_001195427.2
p.D42E
c.126C>A
1 paper
NM_001195427.2
p.D42H
c.124G>C
1 paper
NM_001195427.2
p.P46A
c.136C>G
1 paper
NM_001195427.2
p.R47W
c.139C>T
1 paper
NM_001195427.2
p.R47P
c.140G>C
3 papers
NM_001195427.2
p.D48D
c.144C>T
1 paper
NM_001195427.2
p.R39G
c.115C>G
1 paper
NM_001195427.2
p.R49L
c.146G>T
1 paper
NM_001195427.2
p.G38G
c.114G>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."