Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.L149M

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.L149M
c.445C>A
Surrounding Variants
1 paper
NM_000463.3
p.L149delFs
c.445_446delCT
2 papers
NM_000463.3
p.L149P
c.446T>C
1 paper
NM_000463.3
p.L149L
c.447G>A
1 paper
NM_000463.3
p.M148T
c.443T>C
4 papers
NM_000463.3
p.V147V
c.441C>T
3 papers
NM_000463.3
p.V147A
c.440T>C
3 papers
NM_000463.3
p.V147F
c.439G>T
1 paper
NM_000463.3
p.D151A
c.452A>C
2 papers
NM_000463.3
p.D151G
c.452A>G
1 paper
NM_000463.3
p.P152T
c.454C>A
1 paper
NM_000463.3
p.P152S
c.454C>T
1 paper
NM_000463.3
p.D146N
c.436G>A
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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."