Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.E184Q

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.E184Q
c.550G>C
Surrounding Variants
2 papers
NM_006924.5
p.H183R
c.548A>G
1 paper
NM_006924.5
p.S182S
c.546T>A
1 paper
NM_006924.5
p.F180insFs
c.538_539ins7
1 paper
NM_006924.5
p.K179R
c.536A>G
1 paper
NM_006924.5
p.K174R
c.521A>G
1 paper
NM_006924.5
p.E166A
c.497A>C
1 paper
NM_006924.5
p.K165R
c.494A>G
1 paper
NM_006924.5
p.F162L
c.486T>G
1 paper
NM_006924.5
p.F162L
c.486T>A
1 paper
NM_006924.5
p.F162L
c.484T>C
3 papers
NM_006924.5
p.V160M
c.478G>A
1 paper
NM_006924.5
p.D155_G158delFs
c.464_474del11
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