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.E205Q

c.613G>C

Surrounding Variants

1 paper

NM_020120.4

p.E206K

c.616G>A

1 paper

NM_020120.4

p.E206delFs

c.617delA

6 papers

NM_020120.4

p.S208P

c.622T>C

1 paper

NM_020120.4

p.S200F

c.599C>T

1 paper

NM_020120.4

p.H211L

c.632A>T

1 paper

NM_020120.4

p.R212H

c.635G>A

1 paper

NM_020120.4

p.V196V

c.588G>C

2 papers

NM_020120.4

p.V196V

c.588G>T

1 paper

NM_020120.4

p.P194L

c.581C>T

1 paper

NM_020120.4

p.S216*

c.647C>A

1 paper

NM_020120.4

p.S216*

c.647C>G

1 paper

NM_020120.4

p.S193_S204del12

c.577_611del36