Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.G3G

SRSF1

349 papers

RefSeq Summary

This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its inter...

Pfam Domains

RRM_1aa 18–85UCSCRNA recognition motif
RRM_1aa 123–186UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 1

HGNC Previous Symbol

SFRS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006924.5
p.G3G
c.9A>G
Surrounding Variants
1 paper
NM_006924.5
p.G4insFs
c.10_11insT
1 paper
NM_006924.5
p.G4A
c.11G>C
1 paper
NM_006924.5
p.G4_G5insFs
c.12_13insA
1 paper
NM_006924.5
p.S2S
c.6G>T
1 paper
NM_006924.5
p.S2S
c.6G>A
2 papers
NM_006924.5
p.S2L
c.5C>T
1 paper
NM_006924.5
p.S2W
c.5C>G
1 paper
NM_006924.5
p.G5D
c.14G>A
1 paper
NM_006924.5
p.M1_G4delFs
c.3_12del10
1 paper
NM_006924.5
p.M1I
c.3G>A
1 paper
NM_006924.5
p.M1R
c.2T>G
1 paper
NM_006924.5
p.M1T
c.2T>C
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