Varaico: Literature-Extracted Genetic Variants

Gene:NSRP1

NSRP1

36 papers

Pfam Domains

NSRP1_Naa 58–177UCSCNuclear speckle splicing regulatory protein 1, N-terminal
NRP1_Caa 292–470UCSCNuclear speckle splicing regulatory protein 1, RS-like domain

Gene Aliases

HGNC Name

nuclear speckle splicing regulatory protein 1

HGNC Previous Symbol

CCDC55

Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
2 papers
NM_032141.4
p.Q18*
c.52C>T
2 papers
NM_032141.4
p.D342N
c.1024G>A
2 papers
NM_032141.4
p.R424insFs
c.1272dupG
1 paper
NM_032141.4
p.T16A
c.46A>G
1 paper
NM_032141.4
p.Q24fs
c.70_71fs
1 paper
NM_032141.4
p.Q24delFs
c.71delA
1 paper
NM_032141.4
p.E38_T39Splc
c.114+2T>G
1 paper
NM_032141.4
p.A65T
c.193G>A
1 paper
NM_032141.4
p.K84E
c.250A>G
1 paper
NM_032141.4
p.K86N
c.258G>C
1 paper
NM_032141.4
p.K86N
c.258G>T
1 paper
NM_032141.4
p.L94H
c.281T>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."