Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.E84*

SRSF2

1,104 papers

RefSeq Summary

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recog...

Pfam Domains

RRM_1aa 16–86UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 2

HGNC Previous Symbol

SFRS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001195427.2
p.E84*
c.250G>T
Surrounding Variants
1 paper
NM_001195427.2
p.E84K
c.250G>A
1 paper
NM_001195427.2
p.R83C
c.247C>T
1 paper
NM_001195427.2
p.G82A
c.245G>C
1 paper
NM_001195427.2
p.L85L
c.255G>A
1 paper
NM_001195427.2
p.G82R
c.244G>C
1 paper
NM_001195427.2
p.R86W
c.256C>T
1 paper
NM_001195427.2
p.R86L
c.257G>T
1 paper
NM_001195427.2
p.R86Q
c.257G>A
1 paper
NM_001195427.2
p.D81V
c.242A>T
1 paper
NM_001195427.2
p.V87L
c.259G>T
1 paper
NM_001195427.2
p.L80ins0
c.238_240dupCTG
1 paper
NM_001195427.2
p.V87L
c.259G>C
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