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

2 papers

NM_020121.4

p.M994L

c.2980A>C

Surrounding Variants

1 paper

NM_020121.4

p.M994L

c.2980A>T

1 paper

NM_020121.4

p.M994V

c.2980A>G

1 paper

NM_020121.4

p.L1006F

c.3016C>T

1 paper

NM_020121.4

p.S1013Splc

c.3038+1G>T

1 paper

NM_020121.4

p.A978_Q979del2

c.2932_2936del6

1 paper

NM_020121.4

p.L1033delFs

c.3098_3099delAA

1 paper

NM_020121.4

p.L1033del1

c.3097_3098delAAG

1 paper

NM_020121.4

p.N1051K

c.3153C>G

1 paper

NM_020121.4

p.N1051K

c.3153C>A

3 papers

NM_020121.4

p.M1052I

c.3156G>A

1 paper

NM_020121.4

p.R941*

c.2821C>T

1 paper

NM_020121.4

p.S934C

c.2801C>G