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.P1138S

c.3412C>T

Surrounding Variants

1 paper

NM_020121.4

p.Q1155R

c.3464A>G

3 papers

NM_020121.4

p.M1052I

c.3156G>A

1 paper

NM_020121.4

p.N1051K

c.3153C>G

1 paper

NM_020121.4

p.N1051K

c.3153C>A

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.L1168V

c.3502C>G

1 paper

NM_020121.4

p.I1182V

c.3544A>G