Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.K169_D170insFs

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
10 papers
NM_022464.5
p.K169_D170insFs
c.506_509dup4
Surrounding Variants
3 papers
NM_022464.5
p.D170fs
c.508_509fs
1 paper
NM_022464.5
p.F171S
c.512T>C
2 papers
NM_022464.5
p.F171delFs
c.512_513delAA
1 paper
NM_022464.5
p.L167_L174Fs
c.500_521delinsTTGFs
1 paper
NM_022464.5
p.I164F
c.490A>T
1 paper
NM_022464.5
p.E179Q
c.535G>C
1 paper
NM_022464.5
p.L160R
c.479T>G
1 paper
NM_022464.5
p.M182insFs
c.544_545ins5
1 paper
NM_022464.5
p.E156delFs
c.467delT
1 paper
NM_022464.5
p.Q154H
c.462G>T
1 paper
NM_022464.5
p.Q154H
c.462G>C
3 papers
NM_022464.5
p.Q154*
c.460C>T
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