Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.F170L

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.F170L
c.510C>A
Surrounding Variants
1 paper
NM_000463.3
p.F170L
c.510C>G
1 paper
NM_000463.3
p.F170F
c.510C>T
1 paper
NM_000463.3
p.F170Y
c.509T>A
1 paper
NM_000463.3
p.F171I
c.511T>A
2 papers
NM_000463.3
p.F171L
c.511T>C
3 papers
NM_000463.3
p.F171V
c.511T>G
1 paper
NM_000463.3
p.F171fs
c.511_512fs
2 papers
NM_000463.3
p.F171Y
c.512T>A
1 paper
NM_000463.3
p.F170I
c.508T>A
1 paper
NM_000463.3
p.F170L
c.508T>C
1 paper
NM_000463.3
p.F170V
c.508T>G
17 papers
NM_000463.3
p.F170del1
c.508_510delTTC
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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."