Varaico: Literature-Extracted Genetic Variants

Gene:SYVN1
Variant:p.S314Splc

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
1 paper
NM_172230.3
p.S314Splc
c.941+2T>A
Surrounding Variants
1 paper
NM_172230.3
p.C307S
c.920G>C
1 paper
NM_172230.3
p.C307S
c.919T>A
1 paper
NM_172230.3
p.K303R
c.908A>G
2 papers
NM_172230.3
p.C291S
c.872G>C
2 papers
NM_172230.3
p.C291S
c.871T>A
1 paper
NM_172230.3
p.R322Q
c.965G>A
10 papers
NM_172230.3
p.C329S
c.985T>A
10 papers
NM_172230.3
p.C329S
c.986G>C
2 papers
NM_172230.3
p.R335H
c.1004G>A
1 paper
NM_172230.3
p.R335R
c.1005T>C
1 paper
NM_172230.3
p.A349V
c.1046C>T
1 paper
NM_172230.3
p.H358H
c.1074C>T
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