Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.A144G

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.A144G
c.431C>G
Surrounding Variants
1 paper
NM_006924.5
p.G145R
c.433G>C
2 papers
NM_006924.5
p.C148S
c.442T>A
2 papers
NM_006924.5
p.C148S
c.443G>C
1 paper
NM_006924.5
p.H140R
c.419A>G
1 paper
NM_006924.5
p.H140Y
c.418C>T
1 paper
NM_006924.5
p.D139E
c.417T>G
1 paper
NM_006924.5
p.D139E
c.417T>A
1 paper
NM_006924.5
p.D139G
c.416A>G
1 paper
NM_006924.5
p.D139A
c.416A>C
1 paper
NM_006924.5
p.K138T
c.413A>C
1 paper
NM_006924.5
p.D151A
c.452A>C
1 paper
NM_006924.5
p.D136A
c.407A>C
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