Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.Q1005P

UBE3B

126 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

HECTaa 736–1068UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

ubiquitin protein ligase E3B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_130466.4
p.Q1005P
c.3014A>C
Surrounding Variants
1 paper
NM_130466.4
p.Q1005_D1006Splc
c.3015+1G>A
1 paper
NM_130466.4
p.S1002L
c.3005C>T
8 papers
NM_130466.4
p.R997P
c.2990G>C
1 paper
NM_130466.4
p.P992L
c.2975C>T
1 paper
NM_130466.4
p.Y989C
c.2966A>G
1 paper
NM_130466.4
p.A988T
c.2962G>A
1 paper
NM_130466.4
p.Q1005_D1006Splc
c.3016-15G>A
1 paper
NM_130466.4
p.R1016W
c.3046C>T
2 papers
NM_130466.4
p.R1022H
c.3065G>A
1 paper
NM_130466.4
p.E1025Q
c.3073G>C
1 paper
NM_130466.4
p.R1029H
c.3086G>A
1 paper
NM_130466.4
p.K1047del1
c.3139_3140delAAG
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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."