Varaico: Literature-Extracted Genetic Variants

Gene:UGT2B28
Variant:p.D65fs

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.D65fs
c.193_194fs
Surrounding Variants
1 paper
NM_053039.2
p.F64insFs
c.191_192ins7
1 paper
NM_053039.2
p.A69T
c.205G>A
1 paper
NM_053039.2
p.L46P
c.137T>C
1 paper
NM_053039.2
p.Q93*
c.277C>T
2 papers
NM_053039.2
p.K25N
c.75G>C
2 papers
NM_053039.2
p.K25N
c.75G>T
1 paper
NM_053039.2
p.F119L
c.355T>C
1 paper
NM_053039.2
p.F119L
c.357T>A
1 paper
NM_053039.2
p.F119L
c.357T>G
1 paper
NM_053039.2
p.F119_H120delins
c.357_358delinsAT
1 paper
NM_053039.2
p.H120Y
c.358C>T
1 paper
NM_053039.2
p.S7insFs
c.20dupC
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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."