Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.E101delFs

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
2 papers
NM_022464.5
p.E101delFs
c.302_303delCT
Surrounding Variants
3 papers
NM_022464.5
p.E101fs
c.301_302fs
1 paper
NM_022464.5
p.L104V
c.310C>G
1 paper
NM_022464.5
p.E99*
c.295G>T
1 paper
NM_022464.5
p.Q105E
c.313C>G
1 paper
NM_022464.5
p.Q105H
c.315A>T
1 paper
NM_022464.5
p.N94delFs
c.281_282delAT
1 paper
NM_022464.5
p.N94K
c.282T>G
1 paper
NM_022464.5
p.N94K
c.282T>A
1 paper
NM_022464.5
p.N94Y
c.280A>T
13 papers
NM_022464.5
p.R111*
c.331C>T
9 papers
NM_022464.5
p.R92W
c.274C>T
1 paper
NM_022464.5
p.Y106_R111del6
c.316_332del18
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