Varaico: Literature-Extracted Genetic Variants

Gene:CSRNP2
Variant:p.R266W

CSRNP2

30 papers

RefSeq Summary

The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activatio...

Pfam Domains

CSRNP_Naa 61–280UCSCCysteine/serine-rich nuclear protein N-terminus

Gene Aliases

HGNC Name

cysteine and serine rich nuclear protein 2

HGNC Previous Symbols

C12orf22; FAM130A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030809.3
p.R266W
c.796C>T
Surrounding Variants
1 paper
NM_030809.3
p.I273S
c.818T>G
1 paper
NM_030809.3
p.R257H
c.770G>A
1 paper
NM_030809.3
p.R257C
c.769C>T
1 paper
NM_030809.3
p.R282Q
c.845G>A
1 paper
NM_030809.3
p.P296L
c.887C>T
1 paper
NM_030809.3
p.Q328H
c.984G>T
1 paper
NM_030809.3
p.Q328H
c.984G>C
1 paper
NM_030809.3
p.S348S
c.1044C>T
4 papers
NM_030809.3
p.Q382E
c.1144C>G
1 paper
NM_030809.3
p.S414G
c.1240A>G
1 paper
NM_030809.3
p.T436M
c.1307C>T
1 paper
NM_030809.3
p.C462Y
c.1385G>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."