Varaico: Literature-Extracted Genetic Variants

Gene:SNUPN
Variant:p.D255E

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
2 papers
NM_005701.4
p.D255E
c.765T>A
Surrounding Variants
2 papers
NM_005701.4
p.D255E
c.765T>G
1 paper
NM_005701.4
p.E253_V254Splc
c.760-1G>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
1 paper
NM_005701.4
p.T271I
c.812C>T
1 paper
NM_005701.4
p.R278H
c.833G>A
1 paper
NM_005701.4
p.S283*
c.848C>G
1 paper
NM_005701.4
p.S283*
c.848C>A
2 papers
NM_005701.4
p.D300V
c.899A>T
1 paper
NM_005701.4
p.D300delFs
c.899_900delGT
1 paper
NM_005701.4
p.Y301fs
c.901_902fs
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