Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.Q304*

SIL1

179 papers

RefSeq Summary

This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This pr...

Pfam Domains

Fes1aa 125–222UCSCNucleotide exchange factor Fes1
SIL1_Caa 416–461UCSCSIL1 C-terminal domain

Gene Aliases

HGNC Name

SIL1 nucleotide exchange factor

HGNC Alias Symbol

ULG5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022464.5
p.Q304*
c.910C>T
Surrounding Variants
1 paper
NM_022464.5
p.Y302C
c.905A>G
2 papers
NM_022464.5
p.R298H
c.893G>A
2 papers
NM_022464.5
p.R298C
c.892C>T
4 papers
NM_022464.5
p.G312R
c.934G>C
4 papers
NM_022464.5
p.G312R
c.934G>A
3 papers
NM_022464.5
p.G312E
c.935G>A
1 paper
NM_022464.5
p.L313fs
c.937_938fs
14 papers
NM_022464.5
p.G312insFs
c.936dupG
6 papers
NM_022464.5
p.L313fs
c.937_938fs
10 papers
NM_022464.5
p.L316insFs
c.947_948insT
4 papers
NM_022464.5
p.L316fs
c.946_947fs
1 paper
NM_022464.5
p.R317fs
c.949_950fs
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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."