Varaico: Literature-Extracted Genetic Variants

Gene:UGT2B4
Variant:p.L512M

UGT2B4

124 papers

Pfam Domains

UDPGTaa 24–525UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 2 member B4

HGNC Previous Name

UDP glycosyltransferase 2 family, polypeptide B4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_021139.3
p.L512M
c.1534C>A
Surrounding Variants
2 papers
NM_021139.3
p.C511R
c.1531T>C
1 paper
NM_021139.3
p.T509fs
c.1525_1526fs
1 paper
NM_021139.3
p.K517K
c.1551G>A
1 paper
NM_021139.3
p.F506I
c.1516T>A
1 paper
NM_021139.3
p.R520G
c.1558A>G
1 paper
NM_021139.3
p.G522E
c.1565G>A
1 paper
NM_021139.3
p.V501E
c.1502T>A
1 paper
NM_021139.3
p.K523T
c.1568A>C
1 paper
NM_021139.3
p.G522delFs
c.1566delT
1 paper
NM_021139.3
p.G525R
c.1573G>C
1 paper
NM_021139.3
p.G525R
c.1573G>A
1 paper
NM_021139.3
p.R527fs
c.1579_1580fs
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