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

1–12 of 147 variants

4 papers

NM_020121.4

p.V71M

c.211G>A

3 papers

NM_020121.4

p.L48V

c.142C>G

3 papers

NM_020121.4

p.P131T

c.391C>A

3 papers

NM_020121.4

p.M1052I

c.3156G>A

2 papers

NM_020121.4

p.R11W

c.31C>T

2 papers

NM_020121.4

p.Q123L

c.368A>T

2 papers

NM_020121.4

p.P175L

c.524C>T

2 papers

NM_020121.4

p.S328A

c.982T>G

2 papers

NM_020121.4

p.M994L

c.2980A>C

2 papers

NM_020121.4

p.N1268Y

c.3802A>T

2 papers

NM_020121.4

p.Y1370C

c.4109A>G

2 papers

NM_020121.4

p.H1381R

c.4142A>G