Varaico: Literature-Extracted Genetic Variants

Gene:UBTD1

UBTD1

16 papers

RefSeq Summary

The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protei...

Pfam Domains

UBDaa 25–129UCSCUbiquitin-binding domain
ubiquitinaa 151–222UCSCUbiquitin family

Gene Aliases

HGNC Name

ubiquitin domain containing 1

HGNC Alias Symbol

FLJ11807

Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
1 paper
NM_024954.5
p.G24Splc
c.70+10623C>T
1 paper
NM_024954.5
p.G24Splc
c.70+21535G>C
1 paper
NM_024954.5
p.G24Splc
c.70+21602C>T
1 paper
NM_024954.5
p.G24Splc
c.70+23636G>A
1 paper
NM_024954.5
p.R25H
c.74G>A
1 paper
NM_024954.5
p.E32G
c.95A>G
1 paper
NM_024954.5
p.G45W
c.133G>T
1 paper
NM_024954.5
p.R51Q
c.152G>A
1 paper
NM_024954.5
p.D82N
c.244G>A
1 paper
NM_024954.5
p.E84K
c.250G>A
1 paper
NM_024954.5
p.A86V
c.257C>T
1 paper
NM_024954.5
p.L90ins16
c.269_270ins48
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."