Varaico: Literature-Extracted Genetic Variants

Gene:HERPUD1
Variant:p.V298I

HERPUD1

122 papers

RefSeq Summary

The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolde...

Pfam Domains

ubiquitinaa 12–89UCSCUbiquitin family

Gene Aliases

HGNC Name

homocysteine inducible ER protein with ubiquitin like domain 1

HGNC Previous Symbol

HERPUD1-IT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014685.4
p.V298I
c.892G>A
Surrounding Variants
2 papers
NM_014685.4
p.S288C
c.862A>T
1 paper
NM_014685.4
p.P199L
c.596C>T
1 paper
NM_014685.4
p.P198L
c.593C>T
1 paper
NM_014685.4
p.F195fs
c.583_584fs
1 paper
NM_014685.4
p.F195delFs
c.584_585delTT
1 paper
NM_014685.4
p.Y185*
c.555T>A
1 paper
NM_014685.4
p.Y185*
c.555T>G
1 paper
NM_014685.4
p.Q180*
c.538C>T
1 paper
NM_014685.4
p.R179*
c.535C>T
1 paper
NM_014685.4
p.Y165C
c.494A>G
2 papers
NM_014685.4
p.T163I
c.488C>T
1 paper
NM_014685.4
p.T163S
c.487A>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."