Varaico: Literature-Extracted Genetic Variants

Gene:SRSF5
Variant:p.A152T

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.A152T
c.454G>A
Surrounding Variants
1 paper
NM_001320214.2
p.L157S
c.470T>C
1 paper
NM_001320214.2
p.K158E
c.472A>G
1 paper
NM_001320214.2
p.I161V
c.481A>G
1 paper
NM_001320214.2
p.R172G
c.514A>G
1 paper
NM_001320214.2
p.I174fs
c.520_521fs
1 paper
NM_001320214.2
p.I174delFs
c.522delA
1 paper
NM_001320214.2
p.I177V
c.529A>G
1 paper
NM_001320214.2
p.H183L
c.548A>T
1 paper
NM_001320214.2
p.R201S
c.601C>A
1 paper
NM_001320214.2
p.R201L
c.602G>T
1 paper
NM_001320214.2
p.S208R
c.622A>C
1 paper
NM_001320214.2
p.S208T
c.623G>C
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