Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.Y19F

SRSF1

349 papers

RefSeq Summary

This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its inter...

Pfam Domains

RRM_1aa 18–85UCSCRNA recognition motif
RRM_1aa 123–186UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 1

HGNC Previous Symbol

SFRS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006924.5
p.Y19F
c.56A>T
Surrounding Variants
1 paper
NM_006924.5
p.Y19C
c.56A>G
1 paper
NM_006924.5
p.Y19D
c.55T>G
1 paper
NM_006924.5
p.Y19H
c.55T>C
1 paper
NM_006924.5
p.V20L
c.58G>C
2 papers
NM_006924.5
p.V20M
c.58G>A
2 papers
NM_006924.5
p.C16S
c.47G>C
2 papers
NM_006924.5
p.C16S
c.46T>A
1 paper
NM_006924.5
p.D15A
c.44A>C
2 papers
NM_006924.5
p.P24L
c.71C>T
1 paper
NM_006924.5
p.P25S
c.73C>T
1 paper
NM_006924.5
p.G3_G12del10
c.7_35del30
1 paper
NM_006924.5
p.G12_N13insFs
c.36_37insC
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