Varaico: Literature-Extracted Genetic Variants

Gene:RNPS1
Variant:p.R273G

RNPS1

46 papers

RefSeq Summary

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated ope...

Pfam Domains

RRM_1aa 163–234UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding protein with serine rich domain 1

HGNC Previous Name

RNA-binding protein S1, serine-rich domain

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080594.4
p.R273G
c.817A>G
Surrounding Variants
1 paper
NM_080594.4
p.R269Q
c.806G>A
1 paper
NM_080594.4
p.R264H
c.791G>A
1 paper
NM_080594.4
p.R255G
c.763A>G
1 paper
NM_080594.4
p.E232D
c.696G>T
3 papers
NM_080594.4
p.D229G
c.686A>G
1 paper
NM_080594.4
p.G226Splc
c.677-60A>T
1 paper
NM_080594.4
p.R273G
c.817A>G
1 paper
NM_080594.4
p.R288Q
c.863G>A
1 paper
NM_080594.4
p.R296G
c.886A>G
1 paper
NM_080594.4
p.R305Q
c.914G>A
1 paper
NM_080594.4
p.E217K
c.649G>A
1 paper
NM_080594.4
p.P213delFs
c.638delG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."