Varaico: Literature-Extracted Genetic Variants

Gene:SNUPN

SNUPN

32 papers

RefSeq Summary

The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosi...

Pfam Domains

Snurportin1aa 25–64UCSCSnurportin1
SPN1_m3Gcap_bdaa 101–279UCSCSnurportin1, m3G cap-binding domain

Gene Aliases

HGNC Name

snurportin 1

HGNC Previous Symbol

RNUT1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
3 papers
NM_005701.4
p.R55W
c.163C>T
3 papers
NM_005701.4
p.R55Q
c.164G>A
3 papers
NM_005701.4
p.R204Q
c.611G>A
3 papers
NM_005701.4
p.I309S
c.926T>G
2 papers
NM_005701.4
p.R27C
c.79C>T
2 papers
NM_005701.4
p.R45W
c.133C>T
2 papers
NM_005701.4
p.D255E
c.765T>G
2 papers
NM_005701.4
p.D255E
c.765T>A
2 papers
NM_005701.4
p.D300V
c.899A>T
1 paper
NM_005701.4
p.N19fs
c.55_56fs
1 paper
NM_005701.4
p.L28P
c.83T>C
1 paper
NM_005701.4
p.Q30K
c.88C>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."