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.R1385W

c.4153C>T

Surrounding Variants

2 papers

NM_020121.4

p.H1381R

c.4142A>G

1 paper

NM_020121.4

p.I1389S

c.4166T>G

2 papers

NM_020121.4

p.Y1370C

c.4109A>G

1 paper

NM_020121.4

p.G1369R

c.4105G>C

1 paper

NM_020121.4

p.G1369R

c.4105G>A

1 paper

NM_020121.4

p.E1366V

c.4097A>T

1 paper

NM_020121.4

p.R1364H

c.4091G>A

1 paper

NM_020121.4

p.R1364C

c.4090C>T

1 paper

NM_020121.4

p.T1358T

c.4074T>C

1 paper

NM_020121.4

p.P1354L

c.4061C>T

1 paper

NM_020121.4

p.S1417delins

c.4250_4251delinsCT

1 paper

NM_020121.4

p.F1317delFs

c.3950delA