Varaico: Literature-Extracted Genetic Variants

Gene:SNUPN
Variant:p.Y301fs

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.Y301fs
c.901_902fs
Surrounding Variants
1 paper
NM_005701.4
p.D300delFs
c.899_900delGT
1 paper
NM_005701.4
p.Y301fs
c.901_902fs
1 paper
NM_005701.4
p.D300_Y301delins
c.899_903delinsCTCCA
2 papers
NM_005701.4
p.D300V
c.899A>T
1 paper
NM_005701.4
p.Y301delFs
c.902_903delAT
1 paper
NM_005701.4
p.Y301_Q305delFs
c.903_915del13
1 paper
NM_005701.4
p.Q308*
c.922C>T
3 papers
NM_005701.4
p.I309S
c.926T>G
1 paper
NM_005701.4
p.P299_Q307delFs
c.896_921del26
1 paper
NM_005701.4
p.M310fs
c.928_929fs
1 paper
NM_005701.4
p.I309insFs
c.927dupT
1 paper
NM_005701.4
p.K313R
c.938A>G
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