Varaico: Literature-Extracted Genetic Variants

Gene:CSRNP2
Variant:p.N65K

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.N65K
c.195T>A
Surrounding Variants
1 paper
NM_030809.3
p.N65K
c.195T>G
1 paper
NM_030809.3
p.R67C
c.199C>T
1 paper
NM_030809.3
p.D69H
c.205G>C
1 paper
NM_030809.3
p.R98C
c.292C>T
1 paper
NM_030809.3
p.R123C
c.367C>T
1 paper
NM_030809.3
p.K130*
c.388A>T
1 paper
NM_030809.3
p.E28_I29del2
c.82_86del6
1 paper
NM_030809.3
p.K10delFs
c.28_29delTT
1 paper
NM_030809.3
p.K10R
c.29A>G
1 paper
NM_030809.3
p.K10fs
c.28_29fs
1 paper
NM_030809.3
p.A149S
c.445G>T
1 paper
NM_030809.3
p.L208R
c.623T>G
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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."