Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.R222T

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.R222T
c.665G>C
Surrounding Variants
2 papers
NM_006924.5
p.R218K
c.653G>A
1 paper
NM_006924.5
p.S227insFs
c.679_680insAG
1 paper
NM_006924.5
p.S217S
c.651C>T
1 paper
NM_006924.5
p.P228A
c.682C>G
1 paper
NM_006924.5
p.P228L
c.683C>T
3 papers
NM_006924.5
p.R229K
c.686G>A
1 paper
NM_006924.5
p.S215G
c.643A>G
3 papers
NM_006924.5
p.R214K
c.641G>A
1 paper
NM_006924.5
p.R212delFs
c.636delA
1 paper
NM_006924.5
p.R212C
c.634C>T
1 paper
NM_006924.5
p.R208_R210del3
c.622_629del9
1 paper
NM_006924.5
p.S234A
c.700T>G
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