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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UGT1A4

UGT1A4

192 papers

RefSeq Summary

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-solub...

Pfam Domains

UDPGTaa 29–525UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A4

HGNC Alias Symbols

HUG-BR2; UGT1D

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 201 variants

87 papers

chr2:233718962 T>G

NM_007120.3

p.L48V

c.142T>G

UDPGT

Exome: 9.4% (AC=137332, hom=7362)Genome: 9.8% (AC=14865, hom=854)38 overlapping SVs

65 papers

chr2:233718890 C>A

NM_007120.3

p.P24T

c.70C>A

Exome: 5.4% (AC=79392, hom=2556)Genome: 3.8% (AC=5756, hom=137)38 overlapping SVs

17 papers

chr2:233718983 G>A

NM_007120.3

p.G55S

c.163G>A

UDPGT

exact variant not in gnomAD38 overlapping SVs

7 papers

chr2:233718851 C>T

NM_007120.3

p.R11W

c.31C>T

Exome: 0.2% (AC=2957, hom=54)Genome: 1.3% (AC=2007, hom=48)39 overlapping SVs

7 papers

chr2:233719268 T>C

NM_007120.3

p.L150L

c.448T>C

UDPGT

Exome: 6.7% (AC=98553, hom=4541)Genome: 7.8% (AC=11913, hom=613)39 overlapping SVs

6 papers

chr2:233718946 CA>C

NM_007120.3

p.S43delFs

c.127delA

UDPGT

Exome: 0.0% (AC=86, hom=0)Genome: 0.0% (AC=2, hom=0)38 overlapping SVs

6 papers

chr2:233719624 G>A

NM_007120.3

p.P268P

c.804G>A

UDPGT

Exome: 6.6% (AC=97174, hom=3166)Genome: 7.8% (AC=11914, hom=612)37 overlapping SVs

6 papers

chr2:233719730 C>T

NM_007120.3

p.Q289_E290Splc

c.867+43C>T

Exome: 6.8% (AC=99757, hom=4525)Genome: 6.8% (AC=10411, hom=504)37 overlapping SVs

5 papers

chr2:233718901 G>A

NM_007120.3

p.E27E

c.81G>A

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)38 overlapping SVs

5 papers

chr2:233719291 T>C

NM_007120.3

p.C157C

c.471T>C

UDPGT

Exome: 84.4% (AC=1233624, hom=521569)Genome: 87.6% (AC=133374, hom=58659)39 overlapping SVs

5 papers

chr2:233772413 T>G

NM_007120.3

p.Y487D

c.1459T>G

UDPGT

Exome: 0.0% (AC=138, hom=0)Genome: 0.0% (AC=21, hom=0)25 overlapping SVs

4 papers

chr2:233718927 C>T

NM_007120.3

p.T36I

c.107C>T

UDPGT

Exome: 0.0% (AC=124, hom=0)Genome: 0.0% (AC=7, hom=0)38 overlapping SVs

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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."