Varaico: Literature-Extracted Genetic Variants

Gene:SYVN1
Variant:p.K63R

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
Selected Variant
4 papers
NM_172230.3
p.K63R
c.188A>G
Surrounding Variants
1 paper
NM_172230.3
p.L46R
c.137T>G
1 paper
NM_172230.3
p.E87A
c.260A>C
1 paper
NM_172230.3
p.C89R
c.265T>C
2 papers
NM_172230.3
p.A91D
c.272C>A
1 paper
NM_172230.3
p.T93S
c.277A>T
2 papers
NM_172230.3
p.T93A
c.277A>G
1 paper
NM_172230.3
p.T93S
c.278C>G
1 paper
NM_172230.3
p.V94L
c.280G>C
6 papers
NM_172230.3
p.D98E
c.294C>A
1 paper
NM_172230.3
p.R102H
c.305G>A
1 paper
NM_172230.3
p.E121A
c.362A>C
1 paper
NM_172230.3
p.R123L
c.368G>T
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