Varaico: Literature-Extracted Genetic Variants

Gene:RNPS1
Variant:p.S100A

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.S100A
c.298T>G
Surrounding Variants
1 paper
NM_080594.4
p.S84C
c.250A>T
1 paper
NM_080594.4
p.S81W
c.242C>G
1 paper
NM_080594.4
p.R136H
c.407G>A
1 paper
NM_080594.4
p.R138C
c.412C>T
1 paper
NM_080594.4
p.K140insFs
c.419_420ins4
1 paper
NM_080594.4
p.P156_S157insA
c.466_470ins3
1 paper
NM_080594.4
p.V172M
c.514G>A
1 paper
NM_080594.4
p.H176D
c.526C>G
1 paper
NM_080594.4
p.F181I
c.541T>A
1 paper
NM_080594.4
p.Y205D
c.613T>G
1 paper
NM_080594.4
p.P213delFs
c.638delG
1 paper
NM_080594.4
p.E217K
c.649G>A
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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."