Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A6
Variant:p.G492C

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001072.4
p.G492C
c.1474G>T
Surrounding Variants
1 paper
NM_001072.4
p.D489D
c.1467C>T
1 paper
NM_001072.4
p.S487A
c.1459T>G
8 papers
NM_001072.4
p.Y485D
c.1453T>G
1 paper
NM_001072.4
p.Y483D
c.1447T>G
1 paper
NM_001072.4
p.I504I
c.1512C>T
1 paper
NM_001072.4
p.P475P
c.1425C>T
1 paper
NM_001072.4
p.G512D
c.1535G>A
1 paper
NM_205862.3
p.P186S
c.556C>T
1 paper
NM_205862.3
p.V184V
c.552G>A
1 paper
NM_001072.4
p.P450R
c.1349C>G
2 papers
NM_001072.4
p.P450L
c.1349C>T
1 paper
NM_205862.3
p.D181N
c.541G>A
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