Varaico: Literature-Extracted Genetic Variants

Gene:UBE4B
Variant:p.R167C

UBE4B

119 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

Ufd2P_coreaa 591–1212UCSCUbiquitin elongating factor core
U-boxaa 1228–1299UCSCU-box domain

Gene Aliases

HGNC Name

ubiquitination factor E4B

HGNC Alias Symbols

UBOX3; E4; UFD2; KIAA0684

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001105562.3
p.R167C
c.499C>T
Surrounding Variants
1 paper
NM_001105562.3
p.R173L
c.518G>T
1 paper
NM_001105562.3
p.Q157K
c.469C>A
1 paper
NM_001105562.3
p.E156Q
c.466G>C
1 paper
NM_001105562.3
p.E146V
c.437A>T
1 paper
NM_001105562.3
p.E193G
c.578A>G
1 paper
NM_001105562.3
p.D123A
c.368A>C
1 paper
NM_001105562.3
p.D123H
c.367G>C
1 paper
NM_001105562.3
p.S196S
c.588C>T
1 paper
NM_001105562.3
p.S213C
c.638C>G
1 paper
NM_001105562.3
p.S213S
c.639C>T
1 paper
NM_001105562.3
p.R237Q
c.710G>A
1 paper
NM_001105562.3
p.V260A
c.779T>C
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