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

1–12 of 96 variants

7 papers

NM_152713.5

p.V626A

c.1877T>C

2 papers

NM_152713.5

p.Y181N

c.541T>A

2 papers

NM_152713.5

p.Y360S

c.1079A>C

1 paper

NM_152713.5

p.Y11fs

c.31_32fs

1 paper

NM_152713.5

p.Q14fs

c.40_41fs

1 paper

NM_152713.5

p.L18V

c.52T>G

1 paper

NM_152713.5

p.L23P

c.68T>C

1 paper

NM_152713.5

p.S24T

c.70T>A

1 paper

NM_152713.5

p.S24S

c.72A>T

1 paper

NM_152713.5

p.S30Splc

c.88+4A>T

1 paper

NM_152713.5

p.S30Splc

c.88+7G>T

1 paper

NM_152713.5

p.S30Splc

c.88+131T>C