Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.A67T

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.A67T
c.199G>A
Surrounding Variants
2 papers
NM_006924.5
p.D66A
c.197A>C
1 paper
NM_006924.5
p.R65_D66insFs
c.195_196insA
1 paper
NM_006924.5
p.E68A
c.203A>C
2 papers
NM_006924.5
p.D69A
c.206A>C
2 papers
NM_006924.5
p.A70T
c.208G>A
1 paper
NM_006924.5
p.R65Splc
c.195-8T>G
1 paper
NM_006924.5
p.A70del1
c.208_210delCGC
1 paper
NM_006924.5
p.Y72N
c.214T>A
1 paper
NM_006924.5
p.Y72S
c.215A>C
1 paper
NM_006924.5
p.D66_Y72delFs
c.198_214del17
1 paper
NM_006924.5
p.R74C
c.220C>T
1 paper
NM_006924.5
p.D75N
c.223G>A
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