Varaico: Literature-Extracted Genetic Variants

Gene:SRSF11
Variant:p.D195A

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
2 papers
NM_001350605.2
p.D195A
c.584A>C
Surrounding Variants
1 paper
NM_001350605.2
p.V194A
c.581T>C
1 paper
NM_001350605.2
p.P165L
c.494C>T
1 paper
NM_001350605.2
p.L163R
c.488T>G
1 paper
NM_001350605.2
p.A157G
c.470C>G
1 paper
NM_001350605.2
p.P154S
c.460C>T
1 paper
NM_001350605.2
p.A152T
c.454G>A
1 paper
NM_001350605.2
p.N199K
c.597T>G
1 paper
NM_001350605.2
p.G204S
c.610G>A
1 paper
NM_001350605.2
p.S207A
c.619T>G
1 paper
NM_001350605.2
p.P208L
c.623C>T
1 paper
NM_001350605.2
p.A222V
c.665C>T
1 paper
NM_001350605.2
p.R225fs
c.673_674fs
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