Varaico: Literature-Extracted Genetic Variants

Gene:SYVN1
Variant:p.R416Q

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.R416Q
c.1247G>A
Surrounding Variants
1 paper
NM_172230.3
p.P417S
c.1249C>T
1 paper
NM_172230.3
p.L414fs
c.1240_1241fs
1 paper
NM_172230.3
p.A425G
c.1274C>G
6 papers
NM_172230.3
p.P398L
c.1193C>T
1 paper
NM_172230.3
p.P397L
c.1190C>T
1 paper
NM_172230.3
p.P396L
c.1187C>T
1 paper
NM_172230.3
p.P392L
c.1175C>T
1 paper
NM_172230.3
p.F481C
c.1442T>G
1 paper
NM_172230.3
p.G494R
c.1480G>C
1 paper
NM_172230.3
p.E496*
c.1486G>T
1 paper
NM_172230.3
p.R503L
c.1508G>T
1 paper
NM_172230.3
p.A516T
c.1546G>A
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