Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.E186A

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.E186A
c.557A>C
Surrounding Variants
1 paper
NM_006924.5
p.E186*
c.556G>T
1 paper
NM_006924.5
p.E186Q
c.556G>C
1 paper
NM_006924.5
p.E186K
c.556G>A
1 paper
NM_006924.5
p.G185G
c.555A>G
1 paper
NM_006924.5
p.G185R
c.553G>C
1 paper
NM_006924.5
p.G185R
c.553G>A
1 paper
NM_006924.5
p.A188S
c.562G>T
1 paper
NM_006924.5
p.R191P
c.572G>C
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.D195insFs
c.584_585insA
1 paper
NM_006924.5
p.G196insFs
c.586_587insT
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