Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.R32_K36delFs

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.R32_K36delFs
c.96_108del13
Surrounding Variants
1 paper
NM_001195427.2
p.K36N
c.108G>C
2 papers
NM_001195427.2
p.E35D
c.105G>C
1 paper
NM_001195427.2
p.G38G
c.114G>A
1 paper
NM_001195427.2
p.R32_E35delFs
c.96_103del8
19 papers
NM_001195427.2
p.R32_E35del0
c.95_103del9
1 paper
NM_001195427.2
p.E35Q
c.103G>C
1 paper
NM_001195427.2
p.E35K
c.103G>A
1 paper
NM_001195427.2
p.V33_F34del1
c.98_100delAGA
1 paper
NM_001195427.2
p.R39G
c.115C>G
1 paper
NM_001195427.2
p.F34L
c.102C>G
1 paper
NM_001195427.2
p.F34L
c.102C>A
1 paper
NM_001195427.2
p.V33_F34delFs
c.98_101del4
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