Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.L238delFs

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.L238delFs
c.712delC
Surrounding Variants
1 paper
NM_000463.3
p.F237L
c.711C>A
2 papers
NM_000463.3
p.F237L
c.711C>G
1 paper
NM_000463.3
p.L238_Q239del2
c.712_716del6
1 paper
NM_000463.3
p.L238_R240del3
c.712_719del9
1 paper
NM_000463.3
p.F237L
c.709T>C
1 paper
NM_000463.3
p.L238_Q239ins4
c.712_716ins12
1 paper
NM_000463.3
p.Q239fs
c.715_716fs
7 papers
NM_000463.3
p.Q239*
c.715C>T
6 papers
NM_000463.3
p.E241delFs
c.722_723delAG
1 paper
NM_000463.3
p.Q239R
c.716A>G
1 paper
NM_000463.3
p.R240G
c.718A>G
3 papers
NM_000463.3
p.R240K
c.719G>A
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