Varaico: Literature-Extracted Genetic Variants

Gene:UBN1
Variant:p.C420R

UBN1

78 papers

RefSeq Summary

Cellular senescence is a hallmark of tumor suppression and tissue aging. Senescent cells contain domains of heterochromatin, called senescence-associated heterochromatin foci (SAHF), that repress prol...

Pfam Domains

HUNaa 117–168UCSCHPC2 and ubinuclein domain
UBN_ABaa 353–573UCSCUbinuclein conserved middle domain

Gene Aliases

HGNC Name

ubinuclein 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079514.3
p.C420R
c.1258T>C
Surrounding Variants
1 paper
NM_001079514.3
p.A415V
c.1244C>T
1 paper
NM_001079514.3
p.R428P
c.1283G>C
1 paper
NM_001079514.3
p.R407C
c.1219C>T
1 paper
NM_001079514.3
p.R440S
c.1318C>A
1 paper
NM_001079514.3
p.K477_M478insFs
c.1431_1432ins14
1 paper
NM_001079514.3
p.S493T
c.1477T>A
1 paper
NM_001079514.3
p.E518K
c.1552G>A
1 paper
NM_001079514.3
p.L523L
c.1569G>T
2 papers
NM_001079514.3
p.Q525*
c.1573C>T
1 paper
NM_001079514.3
p.D394Splc
c.1181+1G>A
1 paper
NM_001079514.3
p.D387H
c.1159G>C
1 paper
NM_001079514.3
p.R577*
c.1729C>T
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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."