Varaico: Literature-Extracted Genetic Variants

Gene:NSRP1
Variant:p.R424insFs

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
Selected Variant
2 papers
NM_032141.4
p.R424insFs
c.1272dupG
NM_001261467.2
p.R370insFs
c.1110dupG
Surrounding Variants
1 paper
NM_032141.4
p.K425fs
c.1273_1274fs
1 paper
NM_032141.4
p.R440Q
c.1319G>A
1 paper
NM_032141.4
p.R453_K454delFs
c.1359_1362del4
NM_001261467.2
p.R399_K400delFs
c.1197_1200del4
1 paper
NM_032141.4
p.R453*
c.1357A>T
1 paper
NM_032141.4
p.E455D
c.1365A>C
1 paper
NM_032141.4
p.E455D
c.1365A>T
1 paper
NM_032141.4
p.D464H
c.1390G>C
1 paper
NM_032141.4
p.D383G
c.1148A>G
1 paper
NM_032141.4
p.M478_K480del3
c.1432_1439del9
1 paper
NM_032141.4
p.Q370insFs
c.1110dupA
1 paper
NM_001261467.2
p.M424insFs
c.1272dupG
1 paper
NM_032141.4
p.A367V
c.1100C>T
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