Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.P96T

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.P96T
c.286C>A
Surrounding Variants
2 papers
NM_001195427.2
p.P96fs
c.286_287fs
1 paper
NM_001195427.2
p.P96S
c.286C>T
1 paper
NM_001195427.2
p.P96ins1
c.286_287insACC
13 papers
NM_001195427.2
p.P96L
c.287C>T
1 paper
NM_001195427.2
p.P95P
c.285C>T
1 paper
NM_001195427.2
p.P96R
c.287C>G
1 paper
NM_001195427.2
p.P95P
c.285C>G
23 papers
NM_001195427.2
p.P95fs
c.283_284fs
1 paper
NM_001195427.2
p.P95_P96delins
c.284_287delinsG
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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