Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.G101G

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.G101G
c.303G>A
Surrounding Variants
1 paper
NM_006924.5
p.G102fs
c.304_305fs
1 paper
NM_006924.5
p.G102delFs
c.305delC
1 paper
NM_006924.5
p.G103E
c.308G>A
1 paper
NM_006924.5
p.G105C
c.313G>T
1 paper
NM_006924.5
p.G105R
c.313G>C
1 paper
NM_006924.5
p.G98D
c.293G>A
1 paper
NM_006924.5
p.G105G
c.315C>T
1 paper
NM_006924.5
p.R97Q
c.290G>A
1 paper
NM_006924.5
p.T95I
c.284C>T
1 paper
NM_006924.5
p.P108P
c.324C>A
1 paper
NM_006924.5
p.R93H
c.278G>A
1 paper
NM_006924.5
p.G110V
c.329G>T
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