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.W1478*

c.4434G>A

Surrounding Variants

1 paper

NM_020120.4

p.W1478*

c.4433G>A

1 paper

NM_020120.4

p.C1479Y

c.4436G>A

1 paper

NM_020120.4

p.A1482V

c.4445C>T

1 paper

NM_020120.4

p.W1472*

c.4416G>A

1 paper

NM_020120.4

p.N1458K

c.4374C>A

1 paper

NM_020120.4

p.N1458K

c.4374C>G

2 papers

NM_020120.4

p.D1454A

c.4361A>C

1 paper

NM_020120.4

p.N1495I

c.4484A>T

1 paper

NM_020120.4

p.P1496L

c.4487C>T

1 paper

NM_020120.4

p.A1506T

c.4516G>A

1 paper

NM_020120.4

p.Q1514K

c.4540C>A

1 paper

NM_020120.4

p.Y1516*

c.4548C>A