Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.I7insFs

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.I7insFs
c.21dupT
Surrounding Variants
1 paper
NM_006924.5
p.R8C
c.22C>T
1 paper
NM_006924.5
p.I7T
c.20T>C
1 paper
NM_006924.5
p.G9V
c.26G>T
1 paper
NM_006924.5
p.G9D
c.26G>A
1 paper
NM_006924.5
p.P10S
c.28C>T
1 paper
NM_006924.5
p.P10insFs
c.28_29insT
1 paper
NM_006924.5
p.P10L
c.29C>T
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.A11T
c.31G>A
1 paper
NM_006924.5
p.G4_G5insFs
c.12_13insA
1 paper
NM_006924.5
p.A11G
c.32C>G
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