Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.G3_G12del10

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.G3_G12del10
c.7_35del30
Surrounding Variants
1 paper
NM_006924.5
p.G12_N13insFs
c.36_37insC
1 paper
NM_006924.5
p.A11G
c.32C>G
1 paper
NM_006924.5
p.A11E
c.32C>A
1 paper
NM_006924.5
p.A11T
c.31G>A
1 paper
NM_006924.5
p.D15A
c.44A>C
1 paper
NM_006924.5
p.P10L
c.29C>T
2 papers
NM_006924.5
p.C16S
c.46T>A
1 paper
NM_006924.5
p.P10S
c.28C>T
1 paper
NM_006924.5
p.P10insFs
c.28_29insT
2 papers
NM_006924.5
p.C16S
c.47G>C
1 paper
NM_006924.5
p.G9V
c.26G>T
1 paper
NM_006924.5
p.G9D
c.26G>A
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