Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.L197L

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.L197L
c.591C>T
Surrounding Variants
1 paper
NM_000463.3
p.L197P
c.590T>C
1 paper
NM_000463.3
p.L197F
c.589C>T
1 paper
NM_000463.3
p.P196P
c.588T>C
1 paper
NM_000463.3
p.P196P
c.588T>G
4 papers
NM_000463.3
p.S199C
c.596C>G
1 paper
NM_000463.3
p.S199S
c.597T>C
1 paper
NM_000463.3
p.H200Y
c.598C>T
1 paper
NM_000463.3
p.S201_D202del2
c.601_605del6
1 paper
NM_000463.3
p.H200L
c.599A>T
1 paper
NM_000463.3
p.S201delFs
c.601delT
1 paper
NM_000463.3
p.H200_S201delFs
c.600_601delTT
2 papers
NM_000463.3
p.P194_R195insFs
c.582_583insT
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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."