Varaico: Literature-Extracted Genetic Variants

Gene:UBE4A
Variant:p.F377Y

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.F377Y
c.1130T>A
Surrounding Variants
1 paper
NM_004788.4
p.T402_K403delFs
c.1206_1207delCA
1 paper
NM_004788.4
p.K403fs
c.1207_1208fs
1 paper
NM_004788.4
p.C413delFs
c.1238_1239delGT
1 paper
NM_004788.4
p.C413fs
c.1237_1238fs
1 paper
NM_001204077.2
p.K415N
c.1245G>C
1 paper
NM_001204077.2
p.K415N
c.1245G>T
1 paper
NM_001204077.2
p.S358S
c.1074C>A
1 paper
NM_001204077.2
p.Y351*
c.1053C>A
1 paper
NM_001204077.2
p.Y351*
c.1053C>G
2 papers
NM_001204077.2
p.P343L
c.1028C>T
1 paper
NM_001204077.2
p.C338C
c.1014C>T
1 paper
NM_001204077.2
p.S335I
c.1004G>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."