Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.S25S

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.S25S
c.75C>A
Surrounding Variants
1 paper
NM_000463.3
p.H26_G28del0
c.76_84del9
1 paper
NM_000463.3
p.S25F
c.74C>T
1 paper
NM_000463.3
p.H26fs
c.76_77fs
2 papers
NM_000463.3
p.H26R
c.77A>G
1 paper
NM_000463.3
p.A27_L31delFs
c.80_93del14
1 paper
NM_000463.3
p.S25P
c.73T>C
1 paper
NM_000463.3
p.H26insFs
c.76dupC
2 papers
NM_000463.3
p.V24V
c.72G>A
1 paper
NM_000463.3
p.H26Q
c.78T>A
1 paper
NM_000463.3
p.A27fs
c.79_80fs
1 paper
NM_000463.3
p.V24E
c.71T>A
1 paper
NM_000463.3
p.V24delFs
c.72delG
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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."