Varaico: Literature-Extracted Genetic Variants

Gene:UGT2B28
Variant:p.H458Y

UGT2B28

72 papers

RefSeq Summary

This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diver...

Pfam Domains

UDPGTaa 24–526UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 2 member B28

HGNC Previous Name

UDP glycosyltransferase 2 family, polypeptide B28

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_053039.2
p.H458Y
c.1372C>T
Surrounding Variants
2 papers
NM_053039.2
p.H458D
c.1372C>G
3 papers
NM_053039.2
p.V467V
c.1401G>C
1 paper
NM_053039.2
p.V467_C469delins
c.1401_1406delinsCATGCC
3 papers
NM_053039.2
p.I447R
c.1340T>G
1 paper
NM_053039.2
p.C469S
c.1405T>A
1 paper
NM_053039.2
p.C469R
c.1405T>C
1 paper
NM_053039.2
p.C469delins
c.1405_1406delinsCC
1 paper
NM_053039.2
p.C469S
c.1406G>C
1 paper
NM_053039.2
p.K444N
c.1332A>C
1 paper
NM_053039.2
p.K444N
c.1332A>T
1 paper
NM_053039.2
p.R481C
c.1441C>T
1 paper
NM_053039.2
p.V508I
c.1522G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."