Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.P239A

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.P239A
c.715C>G
Surrounding Variants
1 paper
NM_006924.5
p.S238F
c.713C>T
1 paper
NM_006924.5
p.P239insFs
c.716dupC
1 paper
NM_006924.5
p.P235A
c.703C>G
1 paper
NM_006924.5
p.R243K
c.728G>A
2 papers
NM_006924.5
p.S234*
c.701C>A
1 paper
NM_006924.5
p.S234A
c.700T>G
1 paper
NM_006924.5
p.S244Y
c.731C>A
1 paper
NM_006924.5
p.R245insFs
c.734_735insC
2 papers
NM_006924.5
p.S246A
c.736T>G
1 paper
NM_006924.5
p.R247H
c.740G>A
1 paper
NM_006924.5
p.T248R
c.743C>G
3 papers
NM_006924.5
p.R229K
c.686G>A
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."