Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.E348fs

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.E348fs
c.1042_1043fs
Surrounding Variants
2 papers
NM_022464.5
p.E348insFs
c.1042dupG
1 paper
NM_022464.5
p.E349K
c.1045G>A
2 papers
NM_022464.5
p.F345delFs
c.1035delG
4 papers
NM_022464.5
p.F345fs
c.1033_1034fs
1 paper
NM_022464.5
p.M344_F345insFs
c.1032_1033ins7
5 papers
NM_022464.5
p.F345fs
c.1033_1034fs
5 papers
NM_022464.5
p.M344fs
c.1030_1031fs
1 paper
NM_022464.5
p.M344fs
c.1030_1031fs
3 papers
NM_022464.5
p.Q354*
c.1060C>T
17 papers
NM_022464.5
p.K343_M344Splc
c.1030-9G>A
7 papers
NM_022464.5
p.K343_M344Splc
c.1030-18G>A
1 paper
NM_022464.5
p.L361V
c.1081C>G
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."