Varaico: Literature-Extracted Genetic Variants

Gene:UBXN4
Variant:p.A386S

UBXN4

24 papers

RefSeq Summary

UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 200...

Pfam Domains

UBX7_Naa 2–110UCSCUBX7 N-terminal domain
UBXaa 314–395UCSCUBX domain

Gene Aliases

HGNC Name

UBX domain protein 4

HGNC Previous Symbols

UBXDC1; UBXD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014607.4
p.A386S
c.1156G>T
Surrounding Variants
1 paper
NM_014607.4
p.L393M
c.1177C>A
1 paper
NM_014607.4
p.K378N
c.1134G>C
1 paper
NM_014607.4
p.K378N
c.1134G>T
1 paper
NM_014607.4
p.P438L
c.1313C>T
1 paper
NM_014607.4
p.S456S
c.1368A>T
1 paper
NM_014607.4
p.S458T
c.1373G>C
1 paper
NM_014607.4
p.D476N
c.1426G>A
1 paper
NM_014607.4
p.K294R
c.881A>G
1 paper
NM_014607.4
p.A284T
c.850G>A
1 paper
NM_014607.4
p.L274M
c.820T>A
1 paper
NM_014607.4
p.E212K
c.634G>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."