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.P47Q

c.140C>A

Surrounding Variants

3 papers

NM_020121.4

p.L48V

c.142C>G

1 paper

NM_020121.4

p.L48P

c.143T>C

1 paper

NM_020121.4

p.E51D

c.153G>T

1 paper

NM_020121.4

p.E51D

c.153G>C

1 paper

NM_020121.4

p.G27G

c.81G>A

1 paper

NM_020121.4

p.S53Splc

c.158+43C>T

1 paper

NM_020121.4

p.Q23*

c.67C>T

1 paper

NM_020121.4

p.R11L

c.32G>T

2 papers

NM_020121.4

p.R11W

c.31C>T

1 paper

NM_020121.4

p.V9V

c.27G>C

1 paper

NM_020121.4

p.N8N

c.24C>T

1 paper

NM_020121.4

p.A4A

c.12G>A