Varaico: Literature-Extracted Genetic Variants

Gene:RSRC1

RSRC1

44 papers

RefSeq Summary

This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with ...

Gene Aliases

HGNC Name

arginine and serine rich coiled-coil 1

HGNC Alias Symbols

MGC12197; BM-011; SRrp53; SFRS21

Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
4 papers
NM_001271838.2
p.R138*
c.412C>T
3 papers
NM_001271838.2
p.R69*
c.205C>T
3 papers
NM_001271838.2
p.R90*
c.268C>T
2 papers
NM_001271838.2
p.Q262*
c.784C>T
1 paper
NM_001271838.2
p.M1I
c.3G>A
1 paper
NM_001271838.2
p.M1I
c.3G>C
1 paper
NM_001271838.2
p.M1I
c.3G>T
1 paper
NM_001271838.2
p.R33I
c.98G>T
1 paper
NM_001271838.2
p.T34I
c.101C>T
1 paper
NM_001271838.2
p.R49K
c.146G>A
1 paper
NM_001271838.2
p.R58H
c.173G>A
1 paper
NM_001271838.2
p.S59*
c.176C>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."