Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.T51T

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.T51T
c.153A>G
Surrounding Variants
1 paper
NM_022464.5
p.T51I
c.152C>T
1 paper
NM_022464.5
p.S46I
c.137G>T
5 papers
NM_022464.5
p.E60*
c.178G>T
1 paper
NM_022464.5
p.E60G
c.179A>G
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.A39G
c.116C>G
1 paper
NM_022464.5
p.E37Q
c.109G>C
1 paper
NM_022464.5
p.V69G
c.206T>G
1 paper
NM_022464.5
p.H71fs
c.211_212fs
2 papers
NM_022464.5
p.H71fs
c.211_212fs
6 papers
NM_022464.5
p.H71insFs
c.212dupA
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