Varaico: Literature-Extracted Genetic Variants

Gene:UGT2B28
Variant:p.G376*

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.G376*
c.1126G>T
Surrounding Variants
1 paper
NM_053039.2
p.K367K
c.1101A>G
2 papers
NM_053039.2
p.L365H
c.1094T>A
1 paper
NM_053039.2
p.P389P
c.1167T>C
5 papers
NM_053039.2
p.V391V
c.1173A>G
1 paper
NM_053039.2
p.F396V
c.1186T>G
1 paper
NM_053039.2
p.M420T
c.1259T>C
1 paper
NM_053039.2
p.S421*
c.1262C>A
1 paper
NM_053039.2
p.S421L
c.1262C>T
1 paper
NM_053039.2
p.L425M
c.1273C>A
1 paper
NM_053039.2
p.S437Splc
c.1310+2T>C
1 paper
NM_053039.2
p.A346T
c.1036G>A
1 paper
NM_053039.2
p.K334_V335Splc
c.1003-1G>A
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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."