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.P175L

c.524C>T

Surrounding Variants

1 paper

NM_020121.4

p.L186P

c.557T>C

1 paper

NM_020121.4

p.A197T

c.589G>A

1 paper

NM_020121.4

p.V201I

c.601G>A

1 paper

NM_020121.4

p.I211T

c.632T>C

1 paper

NM_020121.4

p.L215V

c.643C>G

1 paper

NM_020121.4

p.R216H

c.647G>A

1 paper

NM_020121.4

p.H145delFs

c.433_434delTG

1 paper

NM_020121.4

p.H142N

c.424C>A

3 papers

NM_020121.4

p.P131T

c.391C>A

1 paper

NM_020121.4

p.I125N

c.374T>A

1 paper

NM_020121.4

p.I125fs

c.373_374fs