Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.S201delFs

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.S201delFs
c.601delT
Surrounding Variants
1 paper
NM_006924.5
p.S201fs
c.601_602fs
1 paper
NM_006924.5
p.P200A
c.598C>G
1 paper
NM_006924.5
p.S199_P200insFs
c.597_598insG
1 paper
NM_006924.5
p.R198K
c.593G>A
1 paper
NM_006924.5
p.G196insFs
c.586_587insT
1 paper
NM_006924.5
p.R206_S207insFs
c.618_619insT
1 paper
NM_006924.5
p.D195insFs
c.584_585insA
1 paper
NM_006924.5
p.V194fs
c.580_581fs
1 paper
NM_006924.5
p.K193insFs
c.579dupA
1 paper
NM_006924.5
p.R208_R210del3
c.622_629del9
1 paper
NM_006924.5
p.R191P
c.572G>C
1 paper
NM_006924.5
p.R212C
c.634C>T
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