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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:B4GALNT1

Variant:p.R300C

B4GALNT1

123 papers

RefSeq Summary

GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of Ga...

Pfam Domains

Glycos_transf_2aa 280–450UCSCGlycosyl transferase family 2

Gene Aliases

HGNC Name

beta-1,4-N-acetyl-galactosaminyltransferase 1

HGNC Previous Symbols

GALGT; SPG26

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

12 papers

chr12:57628817 G>A

NM_001478.5

p.R300C

c.898C>T

Glycos_transf_2

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)26 overlapping SVs

Surrounding Variants

1 paper

chr12:57628816 C>T

NM_001478.5

p.R300H

c.899G>A

Glycos_transf_2

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=3, hom=0)26 overlapping SVs

1 paper

chr12:57628813 C>T

NM_001478.5

p.R301H

c.902G>A

Glycos_transf_2

Exome: 0.0% (AC=19, hom=0)Genome: n/a26 overlapping SVs

1 paper

chr12:57628826 T>C

NM_001478.5

p.T297A

c.889A>G

Glycos_transf_2

exact variant not in gnomAD26 overlapping SVs

1 paper

chr12:57628801 G>A

NM_001478.5

p.T305M

c.914C>T

Glycos_transf_2

Exome: 0.0% (AC=79, hom=0)Genome: 0.0% (AC=4, hom=0)26 overlapping SVs

1 paper

chr12:57628800 C>T

NM_001478.5

p.T305T

c.915G>A

Glycos_transf_2

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=4, hom=0)26 overlapping SVs

1 paper

chr12:57628835 C>T

NM_001478.5

p.A294T

c.880G>A

Glycos_transf_2

Exome: 0.2% (AC=2553, hom=12)Genome: 0.1% (AC=223, hom=0)26 overlapping SVs

1 paper

chr12:57628838 G>A

NM_001478.5

p.R293W

c.877C>T

Glycos_transf_2

Exome: 0.0% (AC=68, hom=1)Genome: 0.0% (AC=11, hom=0)26 overlapping SVs

1 paper

chr12:57628840 A>G

NM_001478.5

p.L292P

c.875T>C

Glycos_transf_2

Exome: 0.0% (AC=10, hom=0)Genome: n/a26 overlapping SVs

3 papers

chr12:57628791 C>CACGGTA

NM_001478.5

p.V306_V308ins1

c.917_922dup6

Glycos_transf_2

exact variant not in gnomAD26 overlapping SVs

2 papers

chr12:57628844 G>A

NM_001478.5

p.R291W

c.871C>T

Glycos_transf_2

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)26 overlapping SVs

1 paper

chr12:57628849 T>A

NM_001478.5

p.Y289F

c.866A>T

Glycos_transf_2

exact variant not in gnomAD26 overlapping SVs

1 paper

chr12:57628852 C>T

NM_001478.5

p.R288H

c.863G>A

Glycos_transf_2

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=4, hom=0)26 overlapping SVs

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