Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2

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
1–12 of 364 variants
500 papers
NM_001195427.2
p.P95H
c.284C>A
252 papers
NM_001195427.2
p.P95L
c.284C>T
218 papers
NM_001195427.2
p.P95R
c.284C>G
51 papers
NM_001195427.2
p.P95A
c.283C>G
49 papers
NM_001195427.2
p.P95_R103del0
c.284_307del24
43 papers
NM_001195427.2
p.P95T
c.283C>A
28 papers
NM_001195427.2
p.Y44H
c.130T>C
25 papers
NM_001195427.2
p.P107H
c.320C>A
23 papers
NM_001195427.2
p.P95fs
c.283_284fs
19 papers
NM_001195427.2
p.R32_E35del0
c.95_103del9
19 papers
NM_001195427.2
p.P95_R103del9
c.283_308del27
13 papers
NM_001195427.2
p.P96L
c.287C>T
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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."