Varaico: Literature-Extracted Genetic Variants

Gene:UBOX5
Variant:p.L277M

UBOX5

24 papers

RefSeq Summary

This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript ...

Pfam Domains

DUF5918aa 4–217UCSCFamily of unknown function (DUF5918)
U-boxaa 259–337UCSCU-box domain
zf-RING_5aa 482–529UCSCzinc-RING finger domain

Gene Aliases

HGNC Name

U-box domain containing 5

HGNC Alias Symbols

UIP5; KIAA0860; Ubce7ip5; RNF37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014948.4
p.L277M
c.829C>A
Surrounding Variants
1 paper
NM_014948.4
p.K291R
c.872A>G
1 paper
NM_014948.4
p.D258G
c.773A>G
1 paper
NM_014948.4
p.E254A
c.761A>C
1 paper
NM_014948.4
p.E254K
c.760G>A
1 paper
NM_014948.4
p.R301Q
c.902G>A
2 papers
NM_014948.4
p.P306A
c.916C>G
1 paper
NM_014948.4
p.A311D
c.932C>A
1 paper
NM_014948.4
p.E241Q
c.721G>C
1 paper
NM_014948.4
p.Q317R
c.950A>G
1 paper
NM_014948.4
p.A326T
c.976G>A
1 paper
NM_014948.4
p.A326V
c.977C>T
1 paper
NM_014948.4
p.A225A
c.675T>C
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."