Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.K508K

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.K508K
c.1524A>G
Surrounding Variants
1 paper
NM_000463.3
p.C509R
c.1525T>C
3 papers
NM_000463.3
p.C509Y
c.1526G>A
1 paper
NM_000463.3
p.F507_K508del1
c.1521_1523delTAA
1 paper
NM_000463.3
p.K508_C510del3
c.1522_1529del9
4 papers
NM_000463.3
p.C510Y
c.1529G>A
1 paper
NM_000463.3
p.F507fs
c.1519_1520fs
1 paper
NM_000463.3
p.T506N
c.1517C>A
1 paper
NM_000463.3
p.A511T
c.1531G>A
4 papers
NM_000463.3
p.A511P
c.1531G>C
1 paper
NM_000463.3
p.T506A
c.1516A>G
1 paper
NM_000463.3
p.T506delFs
c.1518delC
1 paper
NM_000463.3
p.I505F
c.1513A>T
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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."