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.Q1210H

c.3630G>T

Surrounding Variants

1 paper

NM_020120.4

p.Q1210H

c.3630G>C

1 paper

NM_020120.4

p.V1216M

c.3646G>A

1 paper

NM_020120.4

p.S1226T

c.3677G>C

1 paper

NM_020120.4

p.S1235F

c.3704C>T

1 paper

NM_020120.4

p.D1251N

c.3751G>A

1 paper

NM_020120.4

p.H1265R

c.3794A>G

1 paper

NM_020120.4

p.R1272H

c.3815G>A

1 paper

NM_020120.4

p.F1200L

c.3600C>A

1 paper

NM_020120.4

p.F1200L

c.3600C>G

1 paper

NM_020120.4

p.F1200L

c.3598T>C

1 paper

NM_020120.4

p.V1196I

c.3586G>A

1 paper

NM_020120.4

p.D1189H

c.3565G>C