Varaico: Literature-Extracted Genetic Variants

Gene:UBE4A
Variant:p.S50S

UBE4A

72 papers

RefSeq Summary

This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation th...

Pfam Domains

Ufd2P_coreaa 330–972UCSCUbiquitin elongating factor core
U-boxaa 988–1060UCSCU-box domain

Gene Aliases

HGNC Name

ubiquitination factor E4A

HGNC Alias Symbols

UBOX2; UFD2; KIAA0126; E4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001204077.2
p.S50S
c.150G>A
Surrounding Variants
1 paper
NM_001204077.2
p.R70C
c.208C>T
1 paper
NM_001204077.2
p.R73Q
c.218G>A
1 paper
NM_001204077.2
p.Q75_I78del4
c.223_233del12
1 paper
NM_001204077.2
p.E80Q
c.238G>C
1 paper
NM_001204077.2
p.E117*
c.349G>T
1 paper
NM_001204077.2
p.D125E
c.375T>A
1 paper
NM_001204077.2
p.D125E
c.375T>G
4 papers
NM_001204077.2
p.W128*
c.383G>A
4 papers
NM_001204077.2
p.W128*
c.384G>A
1 paper
NM_001204077.2
p.M131insFs
c.391dupA
1 paper
NM_001204077.2
p.M131fs
c.391_392fs
1 paper
NM_001204077.2
p.A137V
c.410C>T
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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."