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.A331P

c.991G>C

Surrounding Variants

3 papers

NM_020120.4

p.A331T

c.991G>A

1 paper

NM_020120.4

p.S327fs

c.979_980fs

2 papers

NM_020120.4

p.L335L

c.1005G>A

1 paper

NM_020120.4

p.L326_S327delFs

c.978_979delCA

1 paper

NM_020120.4

p.L341L

c.1023G>A

1 paper

NM_020120.4

p.K356K

c.1068A>G

1 paper

NM_020120.4

p.A357insFs

c.1070_1071insC

2 papers

NM_020120.4

p.D325delFs

c.973delG

2 papers

NM_020120.4

p.Q324delFs

c.972delA

1 paper

NM_020120.4

p.V320fs

c.958_959fs

1 paper

NM_020120.4

p.L318insFs

c.954dupA

1 paper

NM_020120.4

p.L318fs

c.952_953fs