Varaico: Literature-Extracted Genetic Variants

Gene:SRSF5
Variant:p.S208R

SRSF5

111 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 6–68UCSCRNA recognition motif
RRM_1aa 110–175UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 5

HGNC Previous Symbol

SFRS5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001320214.2
p.S208R
c.622A>C
Surrounding Variants
1 paper
NM_001320214.2
p.S208T
c.623G>C
1 paper
NM_001320214.2
p.S208R
c.624T>A
1 paper
NM_001320214.2
p.S208R
c.624T>G
1 paper
NM_001320214.2
p.R209S
c.625C>A
2 papers
NM_001320214.2
p.R214Q
c.641G>A
1 paper
NM_001320214.2
p.R201L
c.602G>T
1 paper
NM_001320214.2
p.R201S
c.601C>A
1 paper
NM_001320214.2
p.R216_S217del2
c.646_650del6
1 paper
NM_001320214.2
p.S229F
c.686C>T
1 paper
NM_001320214.2
p.V230G
c.689T>G
1 paper
NM_001320214.2
p.S244Y
c.731C>A
1 paper
NM_001320214.2
p.H183L
c.548A>T
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