Varaico: Literature-Extracted Genetic Variants

UGGT1

274 papers

RefSeq Summary

UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for pro...

Pfam Domains

Thioredoxin_12aa 57–238UCSCThioredoxin-like domain

Thioredoxin_13aa 310–450UCSCThioredoxin-like domain

Thioredoxin_14aa 451–699UCSCThioredoxin-like domain

Thioredoxin_15aa 722–955UCSCThioredoxin-like domain

UDP-g_GGTaseaa 1115–1222UCSCUDP-glucose:Glycoprotein Glucosyltransferase

Glyco_transf_24aa 1256–1523UCSCGlucosyltransferase 24

Gene Aliases

HGNC Name

UDP-glucose glycoprotein glucosyltransferase 1

HGNC Previous Symbol

UGCGL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_020120.4

p.A129A

c.387T>G

Surrounding Variants

5 papers

NM_020120.4

p.T130A

c.388A>G

1 paper

NM_020120.4

p.I131L

c.391A>C

1 paper

NM_020120.4

p.S128P

c.382T>C

1 paper

NM_020120.4

p.Y127*

c.381C>A

1 paper

NM_020120.4

p.Y127*

c.381C>G

1 paper

NM_020120.4

p.Y127_S128delFs

c.381_384del4

1 paper

NM_020120.4

p.A133A

c.399C>T

2 papers

NM_020120.4

p.S123S

c.369C>T

2 papers

NM_020120.4

p.L122L

c.364C>T

1 paper

NM_020120.4

p.Q136_I137Splc

c.408+3G>A

1 paper

NM_020120.4

p.L117F

c.351G>C

1 paper

NM_020120.4

p.L117F

c.351G>T