Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.Y77*

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.Y77*
c.231T>G
Surrounding Variants
1 paper
NM_006924.5
p.Y77*
c.231T>A
1 paper
NM_006924.5
p.D80N
c.238G>A
1 paper
NM_006924.5
p.D75N
c.223G>A
1 paper
NM_006924.5
p.D80A
c.239A>C
1 paper
NM_006924.5
p.R74C
c.220C>T
1 paper
NM_006924.5
p.G81del1
c.241_242delCCC
1 paper
NM_006924.5
p.Y82F
c.245A>T
1 paper
NM_006924.5
p.Y82*
c.246C>G
1 paper
NM_006924.5
p.Y82*
c.246C>A
1 paper
NM_006924.5
p.R83C
c.247C>T
1 paper
NM_006924.5
p.Y72S
c.215A>C
1 paper
NM_006924.5
p.D66_Y72delFs
c.198_214del17
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