Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.L456*

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.L456*
c.1367T>A
Surrounding Variants
3 papers
NM_022464.5
p.L456fs
c.1366_1367fs
3 papers
NM_022464.5
p.L456delFs
c.1367delA
11 papers
NM_022464.5
p.L457P
c.1370T>C
1 paper
NM_022464.5
p.K458*
c.1372A>T
1 paper
NM_022464.5
p.N454S
c.1361A>G
1 paper
NM_022464.5
p.G451S
c.1351G>A
1 paper
NM_022464.5
p.E441A
c.1322A>C
5 papers
NM_022464.5
p.Q438*
c.1312C>T
1 paper
NM_022464.5
p.Y429D
c.1285T>G
1 paper
NM_022464.5
p.Q426_E428delFs
c.1276_1282del7
1 paper
NM_022464.5
p.A427T
c.1279G>A
1 paper
NM_022464.5
p.Q426fs
c.1276_1277fs
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