Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.P89S

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
2 papers
NM_006924.5
p.P89S
c.265C>T
Surrounding Variants
1 paper
NM_006924.5
p.P89A
c.265C>G
1 paper
NM_006924.5
p.R90Q
c.269G>A
1 paper
NM_006924.5
p.V86M
c.256G>A
1 paper
NM_006924.5
p.R85R
c.255G>A
1 paper
NM_006924.5
p.R93H
c.278G>A
2 papers
NM_006924.5
p.L84R
c.251T>G
1 paper
NM_006924.5
p.L84L
c.250C>T
1 paper
NM_006924.5
p.R83C
c.247C>T
1 paper
NM_006924.5
p.T95I
c.284C>T
1 paper
NM_006924.5
p.Y82*
c.246C>G
1 paper
NM_006924.5
p.Y82*
c.246C>A
1 paper
NM_006924.5
p.Y82F
c.245A>T
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