Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.S116S

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.S116S
c.348C>T
Surrounding Variants
1 paper
NM_006924.5
p.S116Y
c.347C>A
1 paper
NM_006924.5
p.S116A
c.346T>G
1 paper
NM_006924.5
p.R117T
c.350G>C
1 paper
NM_006924.5
p.R117K
c.350G>A
1 paper
NM_006924.5
p.P115A
c.343C>G
1 paper
NM_006924.5
p.P115T
c.343C>A
1 paper
NM_006924.5
p.R118R
c.354G>A
1 paper
NM_006924.5
p.S119A
c.355T>G
1 paper
NM_006924.5
p.E120D
c.360A>T
1 paper
NM_006924.5
p.Y112C
c.335A>G
1 paper
NM_006924.5
p.G105_G110delFs
c.315_330del16
1 paper
NM_006924.5
p.G110V
c.329G>T
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