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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UGT1A3

UGT1A3

152 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 A3

HGNC Alias Symbol

UGT1C

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 169 variants

32 papers

chr2:233729266 T>C

NM_019093.4

p.V47A

c.140T>C

UDPGT

Exome: 38.8% (AC=566642, hom=113540)Genome: 45.7% (AC=69507, hom=17326)30 overlapping SVs

28 papers

chr2:233729157 T>C

NM_019093.4

p.W11R

c.31T>C

Exome: 45.3% (AC=661365, hom=152762)Genome: 50.1% (AC=76235, hom=19815)30 overlapping SVs

24 papers

chr2:233729157 T>A

NM_019093.4

p.W11R

c.31T>A

exact variant not in gnomAD30 overlapping SVs

17 papers

chr2:233729259 C>T

NM_019093.4

p.R45W

c.133C>T

UDPGT

Exome: 0.2% (AC=3264, hom=81)Genome: 0.2% (AC=337, hom=11)30 overlapping SVs

14 papers

chr2:233729143 A>G

NM_019093.4

p.Q6R

c.17A>G

Exome: 0.1% (AC=1958, hom=43)Genome: 0.2% (AC=232, hom=3)30 overlapping SVs

11 papers

chr2:233729934 A>G

NM_019093.4

p.M270V

c.808A>G

UDPGT

Exome: 2.9% (AC=42302, hom=670)Genome: 3.4% (AC=5124, hom=101)30 overlapping SVs

8 papers

chr2:233729207 G>A

NM_019093.4

p.E27E

c.81G>A

Exome: 45.7% (AC=667921, hom=156872)Genome: 53.7% (AC=81681, hom=23587)30 overlapping SVs

8 papers

chr2:233729603 A>G

NM_019093.4

p.A159A

c.477A>G

UDPGT

Exome: 45.7% (AC=668243, hom=157014)Genome: 53.7% (AC=81650, hom=23579)30 overlapping SVs

7 papers

chr2:233729268 T>G

NM_019093.4

p.L48V

c.142T>G

UDPGT

Exome: 0.0% (AC=46, hom=0)Genome: 0.0% (AC=4, hom=0)30 overlapping SVs

6 papers

chr2:233729289 G>A

NM_019093.4

p.G55S

c.163G>A

UDPGT

exact variant not in gnomAD30 overlapping SVs

5 papers

chr2:233729345 C>T

NM_019093.4

p.N73N

c.219C>T

UDPGT

exact variant not in gnomAD30 overlapping SVs

4 papers

chr2:233729468 G>A

NM_019093.4

p.M114I

c.342G>A

UDPGT

Exome: 0.1% (AC=1541, hom=30)Genome: 1.0% (AC=1554, hom=35)30 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."