Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.V386F

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.V386F
c.1156G>T
Surrounding Variants
7 papers
NM_000463.3
p.V386I
c.1156G>A
1 paper
NM_000463.3
p.V386G
c.1157T>G
1 paper
NM_000463.3
p.G385D
c.1154G>A
2 papers
NM_000463.3
p.P387A
c.1159C>G
7 papers
NM_000463.3
p.P387S
c.1159C>T
1 paper
NM_000463.3
p.G385S
c.1153G>A
6 papers
NM_000463.3
p.P387H
c.1160C>A
1 paper
NM_000463.3
p.P387insFs
c.1160_1161ins8
8 papers
NM_000463.3
p.P387R
c.1160C>G
2 papers
NM_000463.3
p.P387L
c.1160C>T
1 paper
NM_000463.3
p.P387delins
c.1160_1161delinsGT
1 paper
NM_000463.3
p.N384D
c.1150A>G
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