Varaico: Literature-Extracted Genetic Variants

Gene:SRSF5
Variant:p.E17D

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.E17D
c.51G>C
Surrounding Variants
1 paper
NM_001320214.2
p.E17D
c.51G>T
1 paper
NM_001320214.2
p.D19A
c.56A>C
1 paper
NM_001320214.2
p.A15G
c.44C>G
1 paper
NM_001320214.2
p.G9E
c.26G>A
1 paper
NM_001320214.2
p.G9V
c.26G>T
1 paper
NM_001320214.2
p.R5L
c.14G>T
1 paper
NM_001320214.2
p.D32G
c.95A>G
1 paper
NM_001320214.2
p.S2I
c.5G>T
1 paper
NM_001320214.2
p.I33S
c.98T>G
1 paper
NM_001320214.2
p.M1I
c.3G>A
1 paper
NM_001320214.2
p.M1R
c.2T>G
1 paper
NM_001320214.2
p.D34V
c.101A>T
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