Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.P107H

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
25 papers
NM_001195427.2
p.P107H
c.320C>A
Surrounding Variants
2 papers
NM_001195427.2
p.P107S
c.319C>T
1 paper
NM_001195427.2
p.P106P
c.318A>G
1 paper
NM_001195427.2
p.P96_R108del0
c.287_322del36
1 paper
NM_001195427.2
p.P96_R108del13
c.286_323del39
1 paper
NM_001195427.2
p.D97_R109delFs
c.290_327del38
1 paper
NM_001195427.2
p.G104G
c.312A>G
1 paper
NM_001195427.2
p.P96_R103del8
c.286_308del24
19 papers
NM_001195427.2
p.P95_R103del9
c.283_308del27
1 paper
NM_001195427.2
p.Y110Y
c.330C>T
1 paper
NM_001195427.2
p.Y110*
c.330C>G
1 paper
NM_001195427.2
p.Y110*
c.330C>A
1 paper
NM_001195427.2
p.G111R
c.331G>C
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