Varaico: Literature-Extracted Genetic Variants

Gene:SYVN1

SYVN1

126 papers

RefSeq Summary

This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the c...

Pfam Domains

TPR_SYVN1_Naa 3–271UCSCE3 ubiquitin-protein ligase synoviolin-like, TPR repeats
zf-RING_2aa 289–330UCSCRing finger domain

Gene Aliases

HGNC Name

synoviolin 1

HGNC Alias Symbols

HRD1; DER3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
10 papers
NM_172230.3
p.C329S
c.985T>A
10 papers
NM_172230.3
p.C329S
c.986G>C
6 papers
NM_172230.3
p.D98E
c.294C>A
6 papers
NM_172230.3
p.P398L
c.1193C>T
4 papers
NM_172230.3
p.K63R
c.188A>G
2 papers
NM_172230.3
p.A91D
c.272C>A
2 papers
NM_172230.3
p.T93A
c.277A>G
2 papers
NM_172230.3
p.C291S
c.871T>A
2 papers
NM_172230.3
p.C291S
c.872G>C
2 papers
NM_172230.3
p.R335H
c.1004G>A
2 papers
NM_172230.3
p.N368H
c.1102A>C
2 papers
NM_172230.3
p.K610R
c.1829A>G
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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."