Varaico: Literature-Extracted Genetic Variants

Gene:SRSF11
Variant:p.S70T

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.S70T
c.208T>A
Surrounding Variants
1 paper
NM_001350605.2
p.S70S
c.210G>A
1 paper
NM_001350605.2
p.R77H
c.230G>A
1 paper
NM_001350605.2
p.R77P
c.230G>C
1 paper
NM_001350605.2
p.F80Y
c.239T>A
1 paper
NM_001350605.2
p.H94_L95delFs
c.280_284del5
1 paper
NM_001350605.2
p.H94fs
c.280_281fs
1 paper
NM_001350605.2
p.R103K
c.308G>A
1 paper
NM_001350605.2
p.P109Q
c.326C>A
1 paper
NM_001350605.2
p.I115N
c.344T>A
1 paper
NM_001350605.2
p.L124delFs
c.371_372delTG
1 paper
NM_001350605.2
p.L125fs
c.373_374fs
1 paper
NM_001350605.2
p.G133delFs
c.397delG
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