Varaico: Literature-Extracted Genetic Variants

Gene:UBE2L6

UBE2L6

57 papers

RefSeq Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes...

Pfam Domains

UQ_conaa 6–144UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 L6

HGNC Alias Symbol

UBCH8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
2 papers
NM_004223.5
p.K9E
c.25A>G
2 papers
NM_004223.5
p.K100E
c.298A>G
2 papers
NM_004223.5
p.R146*
c.436C>T
1 paper
NM_004223.5
p.M1T
c.2T>C
1 paper
NM_004223.5
p.E12K
c.34G>A
1 paper
NM_004223.5
p.K16*
c.46A>T
1 paper
NM_004223.5
p.P20L
c.59C>T
1 paper
NM_004223.5
p.L22M
c.64C>A
1 paper
NM_004223.5
p.S27N
c.80G>A
1 paper
NM_004223.5
p.A30P
c.88G>C
1 paper
NM_004223.5
p.L33R
c.98T>G
1 paper
NM_004223.5
p.A37S
c.109G>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."