Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.K118insFs

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
3 papers
NM_000463.3
p.K118insFs
c.353_354insA
Surrounding Variants
3 papers
NM_000463.3
p.I116K
c.347T>A
1 paper
NM_000463.3
p.I116delFs
c.348delA
1 paper
NM_000463.3
p.I116_K117delins
c.347_350delinsAACATTG
1 paper
NM_000463.3
p.K115E
c.343A>G
1 paper
NM_000463.3
p.K118fs
c.352_353fs
3 papers
NM_000463.3
p.K118E
c.352A>G
1 paper
NM_000463.3
p.K118delFs
c.353_354delAG
1 paper
NM_000463.3
p.K114K
c.342G>A
1 paper
NM_000463.3
p.K114_K115insFs
c.342_343insA
1 paper
NM_000463.3
p.K114T
c.341A>C
1 paper
NM_000463.3
p.K118K
c.354G>A
2 papers
NM_000463.3
p.K118N
c.354G>C
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