Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UGT2B28

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 76 variants

5 papers

chr4:69290674 A>G

NM_053039.2

p.V391V

c.1173A>G

UDPGT

Exome: 51.9% (AC=736143, hom=240236)Genome: 46.3% (AC=63945, hom=20354)96 overlapping SVs

3 papers

chr4:69281086 G>C

NM_053039.2

p.V196L

c.586G>C

UDPGT

Exome: 18.0% (AC=255264, hom=51245)Genome: 15.7% (AC=21920, hom=4575)97 overlapping SVs

3 papers

chr4:69281092 A>G

NM_053039.2

p.M198V

c.592A>G

UDPGT

Exome: 0.0% (AC=274, hom=44)Genome: 0.0% (AC=52, hom=5)97 overlapping SVs

3 papers

chr4:69294559 T>G

NM_053039.2

p.I447R

c.1340T>G

UDPGT

Exome: 51.6% (AC=722702, hom=234018)Genome: 45.6% (AC=63569, hom=20240)94 overlapping SVs

3 papers

chr4:69294620 G>C

NM_053039.2

p.V467V

c.1401G>C

UDPGT

Exome: 24.0% (AC=327007, hom=77763)Genome: 26.2% (AC=36543, hom=9002)94 overlapping SVs

2 papers

chr4:69280512 G>A

NM_053039.2

p.K4K

c.12G>A

Exome: 77.3% (AC=1093086, hom=457215)Genome: 73.2% (AC=101213, hom=41525)98 overlapping SVs

2 papers

chr4:69280575 G>C

NM_053039.2

p.K25N

c.75G>C

UDPGT

exact variant not in gnomAD98 overlapping SVs

2 papers

chr4:69280575 G>T

NM_053039.2

p.K25N

c.75G>T

UDPGT

Exome: 0.0% (AC=76, hom=13)Genome: 0.0% (AC=13, hom=1)98 overlapping SVs

2 papers

chr4:69282577 G>A

NM_053039.2

p.W262*

c.785G>A

UDPGT

Exome: n/aGenome: 0.0% (AC=1, hom=0)97 overlapping SVs

2 papers

chr4:69282578 G>A

NM_053039.2

p.W262*

c.786G>A

UDPGT

exact variant not in gnomAD97 overlapping SVs

2 papers

chr4:69290595 T>A

NM_053039.2

p.L365H

c.1094T>A

UDPGT

Exome: 51.6% (AC=716792, hom=236137)Genome: 44.8% (AC=62202, hom=19634)97 overlapping SVs

2 papers

chr4:69294591 C>G

NM_053039.2

p.H458D

c.1372C>G

UDPGT

Exome: 52.0% (AC=735588, hom=239829)Genome: 45.6% (AC=63592, hom=20256)94 overlapping SVs

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."