Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.A58V

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.A58V
c.173C>T
Surrounding Variants
9 papers
NM_001195427.2
p.F57Y
c.170T>A
1 paper
NM_001195427.2
p.D48_F57delFs
c.144_169del26
1 paper
NM_001195427.2
p.V60I
c.178G>A
1 paper
NM_001195427.2
p.V60V
c.180T>G
1 paper
NM_001195427.2
p.V60V
c.180T>C
1 paper
NM_001195427.2
p.R55delFs
c.165delG
1 paper
NM_001195427.2
p.R61insFs
c.181_182insT
1 paper
NM_001195427.2
p.V60_R61delins
c.180_181delinsAA
1 paper
NM_001195427.2
p.R61insFs
c.182_183ins4
1 paper
NM_001195427.2
p.R55P
c.164G>C
1 paper
NM_001195427.2
p.R61delFs
c.181delG
1 paper
NM_001195427.2
p.R61R
c.183C>T
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