Varaico: Literature-Extracted Genetic Variants

Gene:UBE4A
Variant:p.A292fs

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.A292fs
c.874_875fs
Surrounding Variants
1 paper
NM_001204077.2
p.L256L
c.768G>A
1 paper
NM_001204077.2
p.S335I
c.1004G>T
1 paper
NM_001204077.2
p.C338C
c.1014C>T
2 papers
NM_001204077.2
p.P343L
c.1028C>T
1 paper
NM_001204077.2
p.Y351*
c.1053C>A
1 paper
NM_001204077.2
p.Y351*
c.1053C>G
1 paper
NM_001204077.2
p.S358S
c.1074C>A
1 paper
NM_001204077.2
p.H241Splc
c.721+1G>A
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.V221G
c.662T>G
1 paper
NM_001204077.2
p.R211*
c.631C>T
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