Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.F162L

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.F162L
c.486T>G
Surrounding Variants
1 paper
NM_006924.5
p.F162L
c.486T>A
1 paper
NM_006924.5
p.F162L
c.484T>C
3 papers
NM_006924.5
p.V160M
c.478G>A
1 paper
NM_006924.5
p.K165R
c.494A>G
1 paper
NM_006924.5
p.D155_G158delFs
c.464_474del11
1 paper
NM_006924.5
p.E166A
c.497A>C
1 paper
NM_006924.5
p.T157S
c.470C>G
1 paper
NM_006924.5
p.T157S
c.469A>T
1 paper
NM_006924.5
p.G156D
c.467G>A
1 paper
NM_006924.5
p.R154*
c.460C>T
1 paper
NM_006924.5
p.Y153C
c.458A>G
1 paper
NM_006924.5
p.D151A
c.452A>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."