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.F150L

c.448T>C

Surrounding Variants

2 papers

NM_020120.4

p.C147S

c.440G>C

1 paper

NM_020120.4

p.P144L

c.431C>T

3 papers

NM_020120.4

p.E145delFs

c.433_434delGA

1 paper

NM_020120.4

p.K157insFs

c.470_471insT

1 paper

NM_020120.4

p.T158A

c.472A>G

1 paper

NM_020120.4

p.C159insFs

c.475_476insT

1 paper

NM_020120.4

p.T158S

c.473C>G

1 paper

NM_020120.4

p.T158I

c.473C>T

2 papers

NM_020120.4

p.A139T

c.415G>A

1 paper

NM_020120.4

p.D162G

c.485A>G

1 paper

NM_020120.4

p.A166_L167insFs

c.497_501dup5

1 paper

NM_020120.4

p.A166G

c.497C>G