Varaico: Literature-Extracted Genetic Variants

Gene:UBXN8
Variant:p.R207S

UBXN8

12 papers

RefSeq Summary

p97 or VCP (valosin-containing protein) is a versatile ATPase complex, and many cofactors are required for the p97 functional diversity. This gene encodes one of the p97 cofactors. This cofactor is a ...

Pfam Domains

UBXaa 186–265UCSCUBX domain

Gene Aliases

HGNC Name

UBX domain protein 8

HGNC Previous Symbol

UBXD6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005671.4
p.R207S
c.621G>C
Surrounding Variants
1 paper
NM_005671.4
p.R207_F208insFs
c.621_622insT
1 paper
NM_005671.4
p.R207S
c.621G>T
1 paper
NM_005671.4
p.R207fs
c.619_620fs
1 paper
NM_005671.4
p.R206G
c.616A>G
1 paper
NM_005671.4
p.E170_Q171insFs
c.510_511insT
1 paper
NM_005671.4
p.I99T
c.296T>C
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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."