Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Y67F

UGT1A1

1,221 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 28–524UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A1

HGNC Previous Symbols

UGT1; GNT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000463.3
p.Y67F
c.200A>T
Surrounding Variants
1 paper
NM_000463.3
p.Y67C
c.200A>G
1 paper
NM_000463.3
p.Y67Y
c.201C>T
1 paper
NM_000463.3
p.L66F
c.198G>T
2 papers
NM_000463.3
p.I68I
c.204C>A
1 paper
NM_000463.3
p.S65*
c.194C>A
1 paper
NM_000463.3
p.D70_G71ins1
c.210_211insGAC
1 paper
NM_000463.3
p.D70N
c.208G>A
1 paper
NM_000463.3
p.D70G
c.209A>G
2 papers
NM_000463.3
p.D70delFs
c.210delC
1 paper
NM_000463.3
p.A64V
c.191C>T
1 paper
NM_000463.3
p.S65_I68del0
c.193_204del12
1 paper
NM_000463.3
p.D70E
c.210C>G
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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."