Varaico: Literature-Extracted Genetic Variants

Gene:SRSF11
Variant:p.R311Splc

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.R311Splc
c.933-1G>A
Surrounding Variants
1 paper
NM_001350605.2
p.E316*
c.946G>T
1 paper
NM_001350605.2
p.K328R
c.983A>G
2 papers
NM_001350605.2
p.S329fs
c.985_986fs
1 paper
NM_001350605.2
p.R335H
c.1004G>A
1 paper
NM_001350605.2
p.S306G
c.916A>G
1 paper
NM_001350605.2
p.S281C
c.842C>G
1 paper
NM_001350605.2
p.K280_R284del5
c.838_851del15
1 paper
NM_001350605.2
p.E342V
c.1025A>T
1 paper
NM_001350605.2
p.R367H
c.1100G>A
1 paper
NM_001350605.2
p.R367P
c.1100G>C
1 paper
NM_001350605.2
p.R372T
c.1115G>C
1 paper
NM_001350605.2
p.E385Q
c.1153G>C
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