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.V1141G

c.3422T>G

Surrounding Variants

3 papers

NM_020120.4

p.T1145T

c.3435C>T

1 paper

NM_020120.4

p.E1106G

c.3317A>G

1 paper

NM_020120.4

p.Q1155R

c.3464A>G

1 paper

NM_020120.4

p.L1165R

c.3494T>G

1 paper

NM_020120.4

p.G1170R

c.3508G>A

1 paper

NM_020120.4

p.G1170R

c.3508G>C

1 paper

NM_020120.4

p.R1171H

c.3512G>A

1 paper

NM_020120.4

p.S1172A

c.3514T>G

1 paper

NM_020120.4

p.Y1179C

c.3536A>G

10 papers

NM_020120.4

p.N1093K

c.3279T>G

1 paper

NM_020120.4

p.M1064I

c.3192G>A

1 paper

NM_020120.4

p.M1064I

c.3192G>C