Varaico: Literature-Extracted Genetic Variants

Gene:SRSF11
Variant:p.D389A

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.D389A
c.1166A>C
Surrounding Variants
1 paper
NM_001350605.2
p.E385Q
c.1153G>C
2 papers
NM_001350605.2
p.K397del1
c.1189_1190delAAG
1 paper
NM_001350605.2
p.E413D
c.1239G>C
1 paper
NM_001350605.2
p.E413D
c.1239G>T
1 paper
NM_001350605.2
p.K419R
c.1256A>G
1 paper
NM_001350605.2
p.P444delFs
c.1330delC
1 paper
NM_001350605.2
p.P444fs
c.1330_1331fs
1 paper
NM_001350605.2
p.T452A
c.1354A>G
1 paper
NM_001350605.2
p.E477K
c.1429G>A
1 paper
NM_001350605.2
p.R372T
c.1115G>C
1 paper
NM_001350605.2
p.D481N
c.1441G>A
1 paper
NM_001350605.2
p.R367H
c.1100G>A
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