Varaico: Literature-Extracted Genetic Variants

Gene:SNUPN
Variant:p.D168H

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
Selected Variant
1 paper
NM_005701.4
p.D168H
c.502G>C
Surrounding Variants
1 paper
NM_005701.4
p.C174Y
c.521G>A
1 paper
NM_005701.4
p.W191R
c.571T>C
1 paper
NM_005701.4
p.W191R
c.571T>A
3 papers
NM_005701.4
p.R204Q
c.611G>A
1 paper
NM_005701.4
p.D168H
c.502G>C
1 paper
NM_005701.4
p.P236S
c.706C>T
1 paper
NM_005701.4
p.E253_V254Splc
c.760-1G>A
2 papers
NM_005701.4
p.D255E
c.765T>G
2 papers
NM_005701.4
p.D255E
c.765T>A
1 paper
NM_005701.4
p.Q263*
c.787C>T
1 paper
NM_005701.4
p.G269R
c.805G>C
1 paper
NM_005701.4
p.G269R
c.805G>A
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