Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.E201_I203delFs

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
5 papers
NM_022464.5
p.E201_I203delFs
c.603_607del5
Surrounding Variants
1 paper
NM_022464.5
p.A204fs
c.610_611fs
1 paper
NM_022464.5
p.E201D
c.603G>T
3 papers
NM_022464.5
p.E201fs
c.601_602fs
1 paper
NM_022464.5
p.E201D
c.603G>C
1 paper
NM_022464.5
p.E201G
c.602A>G
2 papers
NM_022464.5
p.E201K
c.601G>A
1 paper
NM_022464.5
p.S198N
c.593G>A
1 paper
NM_022464.5
p.L209F
c.625C>T
1 paper
NM_022464.5
p.E210*
c.628G>T
5 papers
NM_022464.5
p.Q215_M216Splc
c.645+1G>A
7 papers
NM_022464.5
p.Q215_M216Splc
c.645+2T>C
1 paper
NM_022464.5
p.M182insFs
c.544_545ins5
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