Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.M1_V3delFs

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
1 paper
NM_000463.3
p.M1_V3delFs
c.3_7del5
Surrounding Variants
2 papers
NM_000463.3
p.M1T
c.2T>C
1 paper
NM_000463.3
p.M1L
c.1A>C
11 papers
NM_000463.3
p.M1V
c.1A>G
4 papers
NM_000463.3
p.M1I
c.3G>A
3 papers
NM_000463.3
p.M1I
c.3G>C
3 papers
NM_000463.3
p.M1I
c.3G>T
1 paper
NM_000463.3
p.M1_V3delFs
c.1_8del8
1 paper
NM_000463.3
p.M1_G8del8
c.1_23del24
2 papers
NM_000463.3
p.A2T
c.4G>A
1 paper
NM_000463.3
p.A2delins
c.4delinsATGT
1 paper
NM_000463.3
p.A2P
c.4G>C
1 paper
NM_000463.3
p.A2insFs
c.4_5insA
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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."