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

7 papers

NM_152713.5

p.V626A

c.1877T>C

Surrounding Variants

1 paper

NM_152713.5

p.V633A

c.1898T>C

1 paper

NM_152713.5

p.M599L

c.1795A>C

1 paper

NM_152713.5

p.M599L

c.1795A>T

1 paper

NM_152713.5

p.L597_W598del1

c.1790_1792delTTT

1 paper

NM_152713.5

p.L597_W598del2

c.1789_1793del6

1 paper

NM_152713.5

p.R662S

c.1984C>A

1 paper

NM_152713.5

p.V689_R690del1

c.2066_2068delTCA

1 paper

NM_152713.5

p.D698A

c.2093A>C

1 paper

NM_152713.5

p.G701S

c.2101G>A

1 paper

NM_152713.5

p.L573L

c.1719C>T

1 paper

NM_152713.5

p.T546I

c.1637C>T

1 paper

NM_152713.5

p.N544S

c.1631A>G