Varaico: Literature-Extracted Genetic Variants

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.S485F

c.1454C>T

Surrounding Variants

1 paper

NM_152713.5

p.I488I

c.1464T>C

1 paper

NM_152713.5

p.R493H

c.1478G>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.R506Q

c.1517G>A

1 paper

NM_152713.5

p.K453R

c.1358A>G

1 paper

NM_152713.5

p.R437H

c.1310G>A

1 paper

NM_152713.5

p.K431N

c.1293G>T

1 paper

NM_152713.5

p.V422_Y429delFs

c.1265_1286del22

1 paper

NM_152713.5

p.V409A

c.1226T>C

1 paper

NM_152713.5

p.R405H

c.1214G>A

1 paper

NM_152713.5

p.R405C

c.1213C>T