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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UGT1A5

UGT1A5

72 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 A5

HGNC Alias Symbol

UGT1E

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 92 variants

8 papers

chr2:233713464 C>G

NM_019078.2

p.A158G

c.473C>G

UDPGT

Exome: 9.8% (AC=142832, hom=7898)Genome: 10.2% (AC=15460, hom=907)38 overlapping SVs

7 papers

chr2:233713415 C>A

NM_019078.2

p.H142N

c.424C>A

UDPGT

Exome: 9.8% (AC=142740, hom=7873)Genome: 10.2% (AC=15453, hom=907)38 overlapping SVs

7 papers

chr2:233713766 G>C

NM_019078.2

p.G259R

c.775G>C

UDPGT

Exome: 9.0% (AC=128741, hom=7744)Genome: 10.1% (AC=15421, hom=897)39 overlapping SVs

6 papers

chr2:233713179 T>C

NM_019078.2

p.L63P

c.188T>C

UDPGT

Exome: 9.8% (AC=142810, hom=7869)Genome: 10.2% (AC=15484, hom=911)38 overlapping SVs

6 papers

chr2:233713766 G>A

NM_019078.2

p.G259R

c.775G>A

UDPGT

exact variant not in gnomAD39 overlapping SVs

5 papers

chr2:233713134 T>C

NM_019078.2

p.L48S

c.143T>C

UDPGT

Exome: 9.8% (AC=142802, hom=7866)Genome: 10.1% (AC=15445, hom=896)38 overlapping SVs

4 papers

chr2:233713133 T>G

NM_019078.2

p.L48V

c.142T>G

UDPGT

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=3, hom=0)38 overlapping SVs

4 papers

chr2:233713141 C>A

NM_019078.2

p.D50E

c.150C>A

UDPGT

exact variant not in gnomAD38 overlapping SVs

4 papers

chr2:233713141 C>G

NM_019078.2

p.D50E

c.150C>G

UDPGT

Exome: 9.8% (AC=143116, hom=7901)Genome: 10.2% (AC=15475, hom=905)38 overlapping SVs

4 papers

chr2:233713664 C>T

NM_019078.2

p.H225Y

c.673C>T

UDPGT

Exome: 9.8% (AC=142522, hom=7858)Genome: 10.1% (AC=15432, hom=900)39 overlapping SVs

4 papers

chr2:233713733 C>A

NM_019078.2

p.L248I

c.742C>A

UDPGT

Exome: 9.0% (AC=128894, hom=7780)Genome: 10.1% (AC=15381, hom=882)39 overlapping SVs

4 papers

chr2:233713736 G>C

NM_019078.2

p.V249L

c.745G>C

UDPGT

Exome: 9.0% (AC=128932, hom=7779)Genome: 10.1% (AC=15376, hom=881)39 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."