Varaico: Literature-Extracted Genetic Variants

Gene:SRSF11
Variant:p.L124delFs

SRSF11

103 papers

RefSeq Summary

This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, str...

Pfam Domains

RRM_1aa 35–106UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 11

HGNC Previous Symbol

SFRS11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001350605.2
p.L124delFs
c.371_372delTG
Surrounding Variants
1 paper
NM_001350605.2
p.L125fs
c.373_374fs
1 paper
NM_001350605.2
p.G133delFs
c.397delG
1 paper
NM_001350605.2
p.I115N
c.344T>A
1 paper
NM_001350605.2
p.A152T
c.454G>A
1 paper
NM_001350605.2
p.P154S
c.460C>T
1 paper
NM_001350605.2
p.A157G
c.470C>G
1 paper
NM_001350605.2
p.L163R
c.488T>G
1 paper
NM_001350605.2
p.P165L
c.494C>T
1 paper
NM_001350605.2
p.V194A
c.581T>C
2 papers
NM_001350605.2
p.D195A
c.584A>C
1 paper
NM_001350605.2
p.P109Q
c.326C>A
1 paper
NM_001350605.2
p.R103K
c.308G>A
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