Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.D119_S120delFs

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.D119_S120delFs
c.357_358delCT
Surrounding Variants
1 paper
NM_000463.3
p.D119Y
c.355G>T
2 papers
NM_000463.3
p.D119fs
c.355_356fs
1 paper
NM_000463.3
p.K118K
c.354G>A
2 papers
NM_000463.3
p.K118N
c.354G>C
1 paper
NM_000463.3
p.K118_D119insFs
c.354_355insA
2 papers
NM_000463.3
p.K118N
c.354G>T
1 paper
NM_000463.3
p.S120P
c.358T>C
1 paper
NM_000463.3
p.S120F
c.359C>T
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
2 papers
NM_000463.3
p.A121T
c.361G>A
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