Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.D97E

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.D97E
c.291C>G
Surrounding Variants
1 paper
NM_001195427.2
p.D97fs
c.289_290fs
1 paper
NM_001195427.2
p.D97insFs
c.290dupA
1 paper
NM_001195427.2
p.D97E
c.291C>A
1 paper
NM_001195427.2
p.D97del1
c.289_290delGTC
1 paper
NM_001195427.2
p.P95_D97delFs
c.284_291del8
1 paper
NM_001195427.2
p.P95_D97del0
c.283_291del9
1 paper
NM_001195427.2
p.D97insFs
c.289dupG
1 paper
NM_001195427.2
p.D97_S98del1
c.290_292delAGT
1 paper
NM_001195427.2
p.R94_S98del0
c.281_292del12
1 paper
NM_001195427.2
p.P96insFs
c.287dupC
4 papers
NM_001195427.2
p.P96fs
c.286_287fs
1 paper
NM_001195427.2
p.P96P
c.288G>A
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