Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.L370M

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.L370M
c.1108C>A
Surrounding Variants
1 paper
NM_022464.5
p.G372D
c.1115G>A
2 papers
NM_022464.5
p.G372delFs
c.1116delG
1 paper
NM_022464.5
p.R365C
c.1093C>T
2 papers
NM_022464.5
p.Q376*
c.1126C>T
1 paper
NM_022464.5
p.L361V
c.1081C>G
1 paper
NM_022464.5
p.C379*
c.1137C>A
3 papers
NM_022464.5
p.Q354*
c.1060C>T
1 paper
NM_022464.5
p.E349K
c.1045G>A
2 papers
NM_022464.5
p.E348insFs
c.1042dupG
1 paper
NM_022464.5
p.E348fs
c.1042_1043fs
1 paper
NM_022464.5
p.A393T
c.1177G>A
2 papers
NM_022464.5
p.F345delFs
c.1035delG
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