Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.F13L

UBE2A

105 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 8–145UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 A

HGNC Alias Symbols

UBC2; HHR6A; RAD6A; HR6A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003336.4
p.F13L
c.37T>C
Surrounding Variants
1 paper
NM_003336.4
p.F13L
c.39C>A
1 paper
NM_003336.4
p.F13L
c.39C>G
1 paper
NM_003336.4
p.K14M
c.41A>T
12 papers
NM_003336.4
p.R11Q
c.32G>A
1 paper
NM_003336.4
p.R15Splc
c.44+1G>A
1 paper
NM_003336.4
p.M10L
c.28A>C
1 paper
NM_003336.4
p.M10L
c.28A>T
1 paper
NM_003336.4
p.R8H
c.23G>A
1 paper
NM_003336.4
p.R8del1
c.22_23delCGC
11 papers
NM_003336.4
p.R7W
c.19C>T
2 papers
NM_003336.4
p.R6Q
c.17G>A
1 paper
NM_003336.4
p.R6L
c.17G>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."