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

1 paper

NM_020120.4

p.M1I

c.3G>C

Surrounding Variants

2 papers

NM_020120.4

p.M1I

c.3G>A

1 paper

NM_020120.4

p.M1I

c.3G>T

1 paper

NM_020120.4

p.G2S

c.4G>A

2 papers

NM_020120.4

p.M1V

c.1A>G

2 papers

NM_020120.4

p.C3Y

c.8G>A

2 papers

NM_020120.4

p.S8S

c.24C>T

1 paper

NM_020120.4

p.G9S

c.25G>A

3 papers

NM_020120.4

p.C11R

c.31T>C

2 papers

NM_020120.4

p.L16delins

c.48delinsA

1 paper

NM_020120.4

p.V18insFs

c.52_53insTA

1 paper

NM_020120.4

p.V18insFs

c.53_54insTA

1 paper

NM_020120.4

p.G20R

c.58G>C