Varaico: Literature-Extracted Genetic Variants

Gene:UBE4A
Variant:p.S179F

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.S179F
c.536C>T
Surrounding Variants
1 paper
NM_001204077.2
p.A184S
c.550G>T
1 paper
NM_001204077.2
p.R166G
c.496C>G
1 paper
NM_001204077.2
p.P147S
c.439C>T
1 paper
NM_001204077.2
p.A137V
c.410C>T
1 paper
NM_001204077.2
p.E187_I188Splc
c.562-13A>G
1 paper
NM_001204077.2
p.E187_I188Splc
c.562-1G>C
1 paper
NM_001204077.2
p.K190R
c.569A>G
1 paper
NM_001204077.2
p.R211*
c.631C>T
1 paper
NM_001204077.2
p.V221G
c.662T>G
1 paper
NM_001204077.2
p.G239R
c.715G>A
1 paper
NM_001204077.2
p.G239R
c.715G>C
1 paper
NM_001204077.2
p.H241Splc
c.721+1G>A
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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."