Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.M1_Y3delFs

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.M1_Y3delFs
c.1_8del8
Surrounding Variants
1 paper
NM_001195427.2
p.Y3Y
c.9C>T
1 paper
NM_001195427.2
p.Y3_G4insFs
c.9_10insGT
1 paper
NM_001195427.2
p.G4insFs
c.10_11insT
2 papers
NM_001195427.2
p.Y3H
c.7T>C
1 paper
NM_001195427.2
p.Y3N
c.7T>A
1 paper
NM_001195427.2
p.G4A
c.11G>C
1 paper
NM_001195427.2
p.S2S
c.6C>T
2 papers
NM_001195427.2
p.S2R
c.6C>G
1 paper
NM_001195427.2
p.S2R
c.6C>A
2 papers
NM_001195427.2
p.S2I
c.5G>T
1 paper
NM_001195427.2
p.S2N
c.5G>A
2 papers
NM_001195427.2
p.R5G
c.13C>G
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