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

21 papers

NM_020120.4

p.D71N

c.211G>A

Surrounding Variants

1 paper

NM_020120.4

p.D71Y

c.211G>T

1 paper

NM_020120.4

p.E70G

c.209A>G

1 paper

NM_020120.4

p.A69T

c.205G>A

1 paper

NM_020120.4

p.A69fs

c.205_206fs

2 papers

NM_020120.4

p.L68L

c.204A>G

1 paper

NM_020120.4

p.K75_F76insFs

c.225_226insT

1 paper

NM_020120.4

p.A82G

c.245C>G

2 papers

NM_020120.4

p.G93S

c.277G>A

1 paper

NM_020120.4

p.G93Splc

c.278-2A>G

1 paper

NM_020120.4

p.F109L

c.327T>G

1 paper

NM_020120.4

p.N116delFs

c.348delT

1 paper

NM_020120.4

p.L117V

c.349T>G