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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLT6D1

GLT6D1

48 papers

RefSeq Summary

The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal ...

Pfam Domains

Glyco_transf_6aa 13–276UCSCGlycosyltransferase family 6

Gene Aliases

HGNC Name

glycosyltransferase 6 domain containing 1

HGNC Previous Symbol

GLTDC1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 42 variants

7 papers

chr9:135624499 C>CN

NM_182974.3

p.W143fs

c.427_428fs

Glyco_transf_6

exact variant not in gnomAD3 overlapping SVs

4 papers

chr9:135624606 G>A

NM_182974.3

p.R108*

c.322C>T

Glyco_transf_6

Exome: 0.1% (AC=1254, hom=2)Genome: 0.1% (AC=140, hom=0)4 overlapping SVs

4 papers

chr9:135624500 CA>C

NM_182974.3

p.W143delFs

c.427delA

Glyco_transf_6

Exome: 19.5% (AC=285570, hom=28404)Genome: 16.9% (AC=25766, hom=2401)3 overlapping SVs

4 papers

chr9:135624273 G>A

NM_182974.3

p.P219S

c.655C>T

Glyco_transf_6

Exome: 7.2% (AC=105184, hom=4189)Genome: 5.4% (AC=8285, hom=277)3 overlapping SVs

2 papers

chr9:135626169 C>G

NM_182974.3

p.A53P

c.157G>C

Glyco_transf_6

Exome: 1.6% (AC=23437, hom=0)Genome: 0.1% (AC=185, hom=0)4 overlapping SVs

2 papers

chr9:135624282 C>T

NM_182974.3

p.A216T

c.646G>A

Glyco_transf_6

Exome: 6.6% (AC=96210, hom=3455)Genome: 5.2% (AC=7964, hom=277)3 overlapping SVs

1 paper

chr9:135626185 C>T

NM_182974.3

p.T47T

c.141G>A

Glyco_transf_6

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=7, hom=0)4 overlapping SVs

1 paper

chr9:135626177 T>C

NM_182974.3

p.D50G

c.149A>G

Glyco_transf_6

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=5, hom=0)4 overlapping SVs

1 paper

chr9:135626177 T>G

NM_182974.3

p.D50A

c.149A>C

Glyco_transf_6

Exome: 0.0% (AC=270, hom=2)Genome: 0.2% (AC=266, hom=0)4 overlapping SVs

1 paper

chr9:135626136 G>A

NM_182974.3

p.R64W

c.190C>T

Glyco_transf_6

Exome: 0.0% (AC=99, hom=0)Genome: 0.1% (AC=78, hom=0)4 overlapping SVs

1 paper

chr9:135626132 A>C

NM_182974.3

p.V65G

c.194T>G

Glyco_transf_6

Exome: 0.0% (AC=297, hom=0)Genome: 0.0% (AC=16, hom=0)4 overlapping SVs

1 paper

chr9:135626100 T>A

NM_182974.3

p.T76S

c.226A>T

Glyco_transf_6

exact variant not in gnomAD4 overlapping SVs

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