Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.T75A

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.T75A
c.223A>G
Surrounding Variants
12 papers
NM_000463.3
p.Y74*
c.222C>A
1 paper
NM_000463.3
p.T75insFs
c.224_225insG
7 papers
NM_000463.3
p.Y74*
c.222C>G
1 paper
NM_000463.3
p.Y74Y
c.222C>T
1 paper
NM_000463.3
p.T75I
c.224C>T
1 paper
NM_000463.3
p.T75T
c.225C>A
1 paper
NM_000463.3
p.L76_Q84del9
c.226_251del27
1 paper
NM_000463.3
p.Y74H
c.220T>C
1 paper
NM_000463.3
p.L76_K77delFs
c.227_231del5
6 papers
NM_000463.3
p.F73L
c.219T>A
5 papers
NM_000463.3
p.F73L
c.219T>G
1 paper
NM_000463.3
p.F73S
c.218T>C
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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."