Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.Q414*

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
4 papers
NM_022464.5
p.Q414*
c.1240C>T
Surrounding Variants
1 paper
NM_022464.5
p.R413insFs
c.1238_1239insA
1 paper
NM_022464.5
p.R411H
c.1232G>A
6 papers
NM_022464.5
p.Q417*
c.1249C>T
1 paper
NM_022464.5
p.V403Fs
c.1207_1209delinsTFs
1 paper
NM_022464.5
p.V403fs
c.1207_1208fs
1 paper
NM_022464.5
p.Q426fs
c.1276_1277fs
1 paper
NM_022464.5
p.A427T
c.1279G>A
1 paper
NM_022464.5
p.Q426_E428delFs
c.1276_1282del7
1 paper
NM_022464.5
p.Y429D
c.1285T>G
1 paper
NM_022464.5
p.A393T
c.1177G>A
5 papers
NM_022464.5
p.Q438*
c.1312C>T
1 paper
NM_022464.5
p.E441A
c.1322A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."