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.F1274L

c.3820T>C

Surrounding Variants

1 paper

NM_020121.4

p.F1274L

c.3822T>G

1 paper

NM_020121.4

p.F1274L

c.3822T>A

1 paper

NM_020121.4

p.K1275T

c.3824A>C

2 papers

NM_020121.4

p.N1268Y

c.3802A>T

1 paper

NM_020121.4

p.N1256T

c.3767A>C

1 paper

NM_020121.4

p.V1253F

c.3757G>T

1 paper

NM_020121.4

p.R1244H

c.3731G>A

1 paper

NM_020121.4

p.E1227K

c.3679G>A

1 paper

NM_020121.4

p.K1275_E1276Splc

c.3826-3T>C

1 paper

NM_020121.4

p.F1317delFs

c.3950delA

1 paper

NM_020121.4

p.T1206_G1208del3

c.3616_3623del9

1 paper

NM_020121.4

p.T1191_K1207delFs

c.3572_3620del49