Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.H71fs

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.H71fs
c.211_212fs
Surrounding Variants
6 papers
NM_022464.5
p.H71insFs
c.212dupA
1 paper
NM_022464.5
p.H71fs
c.211_212fs
1 paper
NM_022464.5
p.P72delFs
c.215delG
1 paper
NM_022464.5
p.T73M
c.218C>T
1 paper
NM_022464.5
p.V69G
c.206T>G
1 paper
NM_022464.5
p.Q77R
c.230A>G
1 paper
NM_022464.5
p.A78S
c.232G>T
1 paper
NM_022464.5
p.D63E
c.189T>G
1 paper
NM_022464.5
p.D63E
c.189T>A
1 paper
NM_022464.5
p.Q80R
c.239A>G
3 papers
NM_022464.5
p.G82Splc
c.244+1G>A
1 paper
NM_022464.5
p.E60G
c.179A>G
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