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.A1430T

c.4288G>A

Surrounding Variants

1 paper

NM_020120.4

p.I1428V

c.4282A>G

1 paper

NM_020120.4

p.L1434L

c.4302C>G

1 paper

NM_020120.4

p.C1386F

c.4157G>T

1 paper

NM_020120.4

p.E1369K

c.4105G>A

1 paper

NM_020120.4

p.R1364Q

c.4091G>A

1 paper

NM_020120.4

p.Q1361fs

c.4081_4082fs

1 paper

NM_020120.4

p.Q1361insFs

c.4081dupC

1 paper

NM_020120.4

p.D1360A

c.4079A>C

1 paper

NM_020120.4

p.D1358A

c.4073A>C

1 paper

NM_020120.4

p.D1352A

c.4055A>C

1 paper

NM_020120.4

p.N1311S

c.3932A>G

2 papers

NM_020120.4

p.D1454A

c.4361A>C