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

3 papers

NM_020120.4

p.A364V

c.1091C>T

Surrounding Variants

1 paper

NM_020120.4

p.V365M

c.1093G>A

2 papers

NM_020120.4

p.E368K

c.1102G>A

1 paper

NM_020120.4

p.E372K

c.1114G>A

1 paper

NM_020120.4

p.E372D

c.1116A>C

1 paper

NM_020120.4

p.E372D

c.1116A>T

1 paper

NM_020120.4

p.E375A

c.1124A>C

1 paper

NM_020120.4

p.N376I

c.1127A>T

1 paper

NM_020120.4

p.Q377R

c.1130A>G

1 paper

NM_020120.4

p.A357insFs

c.1070_1071insC

1 paper

NM_020120.4

p.K356K

c.1068A>G

1 paper

NM_020120.4

p.L341L

c.1023G>A

2 papers

NM_020120.4

p.L335L

c.1005G>A