Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.G40V

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
2 papers
NM_006924.5
p.G40V
c.119G>T
Surrounding Variants
1 paper
NM_006924.5
p.G40insFs
c.119dupG
1 paper
NM_006924.5
p.Y39D
c.115T>G
1 paper
NM_006924.5
p.K38K
c.114A>G
1 paper
NM_006924.5
p.I42N
c.125T>A
1 paper
NM_006924.5
p.Y37S
c.110A>C
1 paper
NM_006924.5
p.R43R
c.129C>T
2 papers
NM_006924.5
p.D44N
c.130G>A
1 paper
NM_006924.5
p.F36L
c.108C>G
1 paper
NM_006924.5
p.V35V
c.105G>C
1 paper
NM_006924.5
p.V35A
c.104T>C
1 paper
NM_006924.5
p.D34N
c.100G>A
1 paper
NM_006924.5
p.D46E
c.138C>A
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