Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.I144L

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.I144L
c.430A>T
Surrounding Variants
1 paper
NM_003336.4
p.E146K
c.436G>A
1 paper
NM_003336.4
p.V141A
c.422T>C
2 papers
NM_003336.4
p.Q147*
c.439C>T
1 paper
NM_003336.4
p.R140L
c.419G>T
1 paper
NM_003336.4
p.R150C
c.448C>T
1 paper
NM_003336.4
p.R135W
c.403C>T
3 papers
NM_003336.4
p.Y130fs
c.388_389fs
2 papers
NM_003336.4
p.L129insFs
c.387dupG
11 papers
NM_003336.4
p.Q128*
c.382C>T
3 papers
NM_003336.4
p.A126T
c.376G>A
1 paper
NM_003336.4
p.Q125delFs
c.373delC
2 papers
NM_003336.4
p.S120T
c.359G>C
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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."