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

1–12 of 284 variants

21 papers

NM_020120.4

p.D71N

c.211G>A

10 papers

NM_020120.4

p.N1093K

c.3279T>G

7 papers

NM_020120.4

p.A129A

c.387T>G

6 papers

NM_020120.4

p.S208P

c.622T>C

5 papers

NM_020120.4

p.L61M

c.181T>A

5 papers

NM_020120.4

p.T130A

c.388A>G

4 papers

NM_020120.4

p.V33A

c.98T>C

4 papers

NM_020120.4

p.K181E

c.541A>G

3 papers

NM_020120.4

p.C11R

c.31T>C

3 papers

NM_020120.4

p.E145delFs

c.433_434delGA

3 papers

NM_020120.4

p.A331T

c.991G>A

3 papers

NM_020120.4

p.A364V

c.1091C>T