Varaico: Literature-Extracted Genetic Variants

UGGT2

135 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 45–226UCSCThioredoxin-like domain

Thioredoxin_13aa 296–432UCSCThioredoxin-like domain

Thioredoxin_14aa 437–686UCSCThioredoxin-like domain

Thioredoxin_15aa 710–933UCSCThioredoxin-like domain

UDP-g_GGTaseaa 1093–1200UCSCUDP-glucose:Glycoprotein Glucosyltransferase

Glyco_transf_24aa 1231–1498UCSCGlucosyltransferase 24

Gene Aliases

HGNC Name

UDP-glucose glycoprotein glucosyltransferase 2

HGNC Previous Symbol

UGCGL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020121.4

p.Q363H

c.1089A>C

Surrounding Variants

1 paper

NM_020121.4

p.Q363H

c.1089A>T

1 paper

NM_020121.4

p.Q363E

c.1087C>G

1 paper

NM_020121.4

p.S345delFs

c.1033delA

1 paper

NM_020121.4

p.I335V

c.1003A>G

2 papers

NM_020121.4

p.S328A

c.982T>G

1 paper

NM_020121.4

p.Y326_D327delFs

c.978_979delCA

1 paper

NM_020121.4

p.P324delFs

c.972delT

1 paper

NM_020121.4

p.L287L

c.861G>A

1 paper

NM_020121.4

p.D282N

c.844G>A