Varaico: Literature-Extracted Genetic Variants

Gene:UBE4B
Variant:p.P804S

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.P804S
c.2410C>T
Surrounding Variants
2 papers
NM_001105562.3
p.R825W
c.2473C>T
1 paper
NM_001105562.3
p.L880L
c.2638T>C
1 paper
NM_001105562.3
p.E886K
c.2656G>A
1 paper
NM_001105562.3
p.D887D
c.2661T>C
1 paper
NM_001105562.3
p.R926*
c.2776C>T
1 paper
NM_001105562.3
p.P943S
c.2827C>T
1 paper
NM_001105562.3
p.Q946H
c.2838G>C
1 paper
NM_001105562.3
p.Q946H
c.2838G>T
1 paper
NM_001105562.3
p.R788I
c.2363G>T
1 paper
NM_001105562.3
p.I769V
c.2305A>G
1 paper
NM_001105562.3
p.L762V
c.2284C>G
1 paper
NM_001105562.3
p.P754S
c.2260C>T
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