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

4 papers

NM_020120.4

p.V33A

c.98T>C

Surrounding Variants

1 paper

NM_020120.4

p.L36V

c.106C>G

1 paper

NM_020120.4

p.F37L

c.111C>A

1 paper

NM_020120.4

p.S39_V40insFs

c.117_118insT

2 papers

NM_020120.4

p.A42delFs

c.124delG

1 paper

NM_020120.4

p.G20fs

c.58_59fs

2 papers

NM_020120.4

p.I47T

c.140T>C

1 paper

NM_020120.4

p.S50P

c.148T>C

1 paper

NM_020120.4

p.L51P

c.152T>C

1 paper

NM_020120.4

p.T52delins

c.156delinsTGTGTGT

1 paper

NM_020120.4

p.W55S

c.164G>C

5 papers

NM_020120.4

p.L61M

c.181T>A

1 paper

NM_020120.4

p.S65Splc

c.194+15T>C