Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.P55L

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.P55L
c.164C>T
Surrounding Variants
1 paper
NM_006924.5
p.P55T
c.163C>A
1 paper
NM_006924.5
p.F56I
c.166T>A
1 paper
NM_006924.5
p.P55delFs
c.165delG
1 paper
NM_006924.5
p.Y39_G53delFs
c.117_157del41
1 paper
NM_006924.5
p.A57A
c.171C>T
1 paper
NM_006924.5
p.G52W
c.154G>T
2 papers
NM_006924.5
p.E60D
c.180G>T
2 papers
NM_006924.5
p.E60D
c.180G>C
1 paper
NM_006924.5
p.K48R
c.143A>G
1 paper
NM_006924.5
p.E62A
c.185A>C
1 paper
NM_006924.5
p.L47L
c.141C>T
1 paper
NM_006924.5
p.D63A
c.188A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."