Varaico: Literature-Extracted Genetic Variants

Gene:STT3A
Variant:p.N544S

STT3A

82 papers

RefSeq Summary

The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues ...

Pfam Domains

STT3aa 17–418UCSCOligosaccharyl transferase STT3, N-terminal
AglB_core-likeaa 493–582UCSCAglB core domain

Gene Aliases

HGNC Name

STT3 oligosaccharyltransferase complex catalytic subunit A

HGNC Previous Symbol

ITM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152713.5
p.N544S
c.1631A>G
Surrounding Variants
1 paper
NM_152713.5
p.T546I
c.1637C>T
1 paper
NM_152713.5
p.Y530S
c.1589A>C
1 paper
NM_152713.5
p.M523I
c.1569G>A
1 paper
NM_152713.5
p.M523I
c.1569G>C
1 paper
NM_152713.5
p.M523I
c.1569G>T
1 paper
NM_152713.5
p.L573L
c.1719C>T
1 paper
NM_152713.5
p.R506Q
c.1517G>A
1 paper
NM_152713.5
p.R499S
c.1497G>C
1 paper
NM_152713.5
p.R499S
c.1497G>T
1 paper
NM_152713.5
p.R493H
c.1478G>A
1 paper
NM_152713.5
p.I488I
c.1464T>C
1 paper
NM_152713.5
p.S485F
c.1454C>T
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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."