Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.G779R

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
5 papers
NM_130466.4
p.G779R
c.2335G>C
Surrounding Variants
7 papers
NM_130466.4
p.G779R
c.2335G>A
1 paper
NM_130466.4
p.E788D
c.2364G>C
1 paper
NM_130466.4
p.E788D
c.2364G>T
1 paper
NM_130466.4
p.S754delFs
c.2260delA
1 paper
NM_130466.4
p.K751_T752Splc
c.2254-2A>T
1 paper
NM_130466.4
p.K751R
c.2252A>G
1 paper
NM_130466.4
p.R741fs
c.2221_2222fs
3 papers
NM_130466.4
p.R741_V742delFs
c.2223_2224delAG
6 papers
NM_130466.4
p.Q727P
c.2180A>C
1 paper
NM_130466.4
p.N716D
c.2146A>G
5 papers
NM_130466.4
p.Q700*
c.2098C>T
1 paper
NM_130466.4
p.E692_D693Splc
c.2077-1380A>G
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