Varaico: Literature-Extracted Genetic Variants

Gene:UBE4B
Variant:p.N722S

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
3 papers
NM_001105562.3
p.N722S
c.2165A>G
Surrounding Variants
1 paper
NM_001105562.3
p.D733Y
c.2197G>T
1 paper
NM_001105562.3
p.P708L
c.2123C>T
1 paper
NM_001105562.3
p.E740K
c.2218G>A
2 papers
NM_001105562.3
p.Q696*
c.2086C>T
1 paper
NM_001105562.3
p.P754S
c.2260C>T
1 paper
NM_001105562.3
p.L762V
c.2284C>G
1 paper
NM_001105562.3
p.I769V
c.2305A>G
1 paper
NM_001105562.3
p.R788I
c.2363G>T
1 paper
NM_001105562.3
p.A662V
c.1985C>T
1 paper
NM_001105562.3
p.S659I
c.1976G>T
1 paper
NM_001105562.3
p.E655E
c.1965G>A
1 paper
NM_001105562.3
p.I643F
c.1927A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."