Varaico: Literature-Extracted Genetic Variants

Gene:SVIP
Variant:p.C4S

SVIP

14 papers

RefSeq Summary

Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized protein...

Pfam Domains

SVIPaa 2–66UCSCSmall VCP/p97-interacting protein

Gene Aliases

HGNC Name

small VCP interacting protein

HGNC Alias Symbol

DKFZp313A2432

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_148893.3
p.C4S
c.11G>C
Surrounding Variants
1 paper
NM_148893.3
p.C4S
c.10T>A
1 paper
NM_148893.3
p.G2A
c.5G>C
1 paper
NM_148893.3
p.C7S
c.19T>A
1 paper
NM_148893.3
p.M1_G2insFs
c.3_4insA
1 paper
NM_148893.3
p.C7S
c.20G>C
1 paper
NM_148893.3
p.L18_E19Splc
c.54+2T>A
1 paper
NM_148893.3
p.E20K
c.58G>A
2 papers
NM_148893.3
p.A26V
c.77C>T
1 paper
NM_148893.3
p.E19_L25del0
c.55_75del21
1 paper
NM_148893.3
p.K59I
c.176A>T
2 papers
NM_148893.3
p.S77L
c.230C>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."