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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:B3GAT3

B3GAT3

88 papers

RefSeq Summary

The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric link...

Pfam Domains

Glyco_transf_43aa 96–312UCSCGlycosyltransferase family 43

Gene Aliases

HGNC Name

beta-1,3-glucuronyltransferase 3

HGNC Alias Symbol

GlcAT-I

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 81 variants

20 papers

chr11:62616585 C>T

NM_012200.4

p.R277Q

c.830G>A

Glyco_transf_43

Exome: 0.0% (AC=21, hom=0)Genome: n/a34 overlapping SVs

9 papers

chr11:62616748 C>T

NM_012200.4

p.G223S

c.667G>A

Glyco_transf_43

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=2, hom=0)34 overlapping SVs

7 papers

chr11:62621947 T>C

NM_012200.4

p.M1V

c.1A>G

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=2, hom=0)33 overlapping SVs

7 papers

chr11:62620509 G>A

NM_012200.4

p.P82L

c.245C>T

Exome: 0.0% (AC=5, hom=0)Genome: n/a33 overlapping SVs

7 papers

chr11:62617186 G>A

NM_012200.4

p.P140L

c.419C>T

Glyco_transf_43

exact variant not in gnomAD34 overlapping SVs

7 papers

chr11:62616744 A>T

NM_012200.4

p.L224Q

c.671T>A

Glyco_transf_43

Exome: 0.0% (AC=4, hom=0)Genome: n/a34 overlapping SVs

6 papers

chr11:62617100 G>A

NM_012200.4

p.R169W

c.505C>T

Glyco_transf_43

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=2, hom=0)34 overlapping SVs

6 papers

chr11:62616742 G>A

NM_012200.4

p.R225*

c.673C>T

Glyco_transf_43

Exome: 0.0% (AC=13, hom=0)Genome: n/a34 overlapping SVs

5 papers

chr11:62617189 G>A

NM_012200.4

p.T139M

c.416C>T

Glyco_transf_43

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=2, hom=0)34 overlapping SVs

4 papers

chr11:62617124 G>A

NM_012200.4

p.R161W

c.481C>T

Glyco_transf_43

Exome: 0.0% (AC=9, hom=0)Genome: n/a34 overlapping SVs

4 papers

chr11:62616526 G>A

NM_012200.4

p.R297W

c.889C>T

Glyco_transf_43

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)34 overlapping SVs

3 papers

chr11:62621901 G>T

NM_012200.4

p.S16*

c.47C>A

exact variant not in gnomAD33 overlapping SVs

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