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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UGT1A6

UGT1A6

284 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 27–523UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A6

HGNC Alias Symbols

HLUGP; GNT1; UGT1F

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 192 variants

124 papers

chr2:233693545 A>G

NM_001072.4

p.T181A

c.541A>G

UDPGT

Exome: 32.1% (AC=469827, hom=77448)Genome: 30.0% (AC=45648, hom=7183)35 overlapping SVs

115 papers

chr2:233693556 A>C

NM_001072.4

p.R184S

c.552A>C

UDPGT

Exome: 34.6% (AC=506448, hom=89689)Genome: 33.7% (AC=51241, hom=8872)35 overlapping SVs

87 papers

chr2:233693556 A>T

NM_001072.4

p.R184S

c.552A>T

UDPGT

exact variant not in gnomAD35 overlapping SVs

51 papers

chr2:233693023 T>G

NM_001072.4

p.S7A

c.19T>G

Exome: 40.4% (AC=590417, hom=121224)Genome: 39.3% (AC=59796, hom=11943)35 overlapping SVs

12 papers

chr2:233693319 A>G

NM_001072.4

p.L105L

c.315A>G

UDPGT

Exome: 34.8% (AC=508766, hom=90448)Genome: 35.4% (AC=53881, hom=9738)35 overlapping SVs

9 papers

chr2:233693631 G>T

NM_001072.4

p.V209V

c.627G>T

UDPGT

Exome: 2.7% (AC=39032, hom=815)Genome: 5.4% (AC=8262, hom=380)35 overlapping SVs

8 papers

chr2:233693312 C>A

NM_001072.4

p.S103*

c.308C>A

UDPGT

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=6, hom=0)35 overlapping SVs

8 papers

chr2:233772413 T>G

NM_001072.4

p.Y485D

c.1453T>G

UDPGT

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

6 papers

chr2:233693312 C>G

NM_001072.4

p.S103*

c.308C>G

UDPGT

exact variant not in gnomAD35 overlapping SVs

5 papers

chr2:233693109 C>T

NM_001072.4

p.D35D

c.105C>T

UDPGT

Exome: 0.2% (AC=2760, hom=62)Genome: 0.3% (AC=385, hom=9)35 overlapping SVs

5 papers

chr2:233693167 G>A

NM_001072.4

p.E55K

c.163G>A

UDPGT

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)35 overlapping SVs

5 papers

chr2:233693273 G>A

NM_001072.4

p.R90H

c.269G>A

UDPGT

Exome: 0.0% (AC=111, hom=0)Genome: 0.0% (AC=12, hom=0)35 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."