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.L224L

c.672C>G

Surrounding Variants

1 paper

NM_152713.5

p.L226L

c.678G>A

1 paper

NM_152713.5

p.R235Q

c.704G>A

1 paper

NM_152713.5

p.A239D

c.716C>A

1 paper

NM_152713.5

p.S207L

c.620C>T

1 paper

NM_152713.5

p.Q253R

c.758A>G

1 paper

NM_152713.5

p.S255T

c.763T>A

1 paper

NM_152713.5

p.Q260K

c.778C>A

1 paper

NM_152713.5

p.Q260E

c.778C>G

1 paper

NM_152713.5

p.Q260R

c.779A>G

1 paper

NM_152713.5

p.Q260L

c.779A>T

1 paper

NM_152713.5

p.A199_L200delFs

c.597_598delCC

1 paper

NM_152713.5

p.V187A

c.560T>C