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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GXYLT1

Variant:p.V28E

GXYLT1

99 papers

RefSeq Summary

GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (...

Pfam Domains

Glyco_transf_8aa 116–364UCSCGlycosyl transferase family 8

Gene Aliases

HGNC Name

glucoside xylosyltransferase 1

HGNC Previous Symbol

GLT8D3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

5 papers

chr12:42144564 A>T

NM_173601.2

p.V28E

c.83T>A

Exome: 1.9% (AC=22753, hom=30)Genome: 0.3% (AC=294, hom=0)22 overlapping SVs

Surrounding Variants

8 papers

chr12:42144565 C>T

NM_173601.2

p.V28M

c.82G>A

Exome: 1.9% (AC=22660, hom=26)Genome: 0.2% (AC=275, hom=0)22 overlapping SVs

1 paper

chr12:42144569 G>C

NM_173601.2

p.L26L

c.78C>G

Exome: 1.9% (AC=22998, hom=23)Genome: 0.2% (AC=255, hom=0)22 overlapping SVs

1 paper

chr12:42144569 G>T

NM_173601.2

p.L26L

c.78C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a22 overlapping SVs

1 paper

chr12:42144554 T>C

NM_173601.2

p.E31E

c.93A>G

Exome: 2.3% (AC=27139, hom=71)Genome: 0.4% (AC=408, hom=0)22 overlapping SVs

12 papers

chr12:42144550 C>A

NM_173601.2

p.G33*

c.97G>T

Exome: 2.3% (AC=27340, hom=83)Genome: 0.4% (AC=441, hom=0)22 overlapping SVs

1 paper

chr12:42144581 A>G

NM_173601.2

p.A22A

c.66T>C

Exome: 1.2% (AC=14997, hom=2)Genome: 0.0% (AC=62, hom=0)22 overlapping SVs

13 papers

chr12:42144547 T>C

NM_173601.2

p.T34A

c.100A>G

Exome: 2.4% (AC=28024, hom=91)Genome: 0.4% (AC=463, hom=0)22 overlapping SVs

1 paper

chr12:42144584 G>A

NM_173601.2

p.Y21Y

c.63C>T

Exome: 0.9% (AC=11358, hom=0)Genome: 0.0% (AC=39, hom=0)22 overlapping SVs

13 papers

chr12:42144538 C>A

NM_173601.2

p.G37C

c.109G>T

Exome: 2.5% (AC=29140, hom=108)Genome: 0.5% (AC=548, hom=0)23 overlapping SVs

1 paper

chr12:42144593 C>G

NM_173601.2

p.S18S

c.54G>C

Exome: 0.4% (AC=4481, hom=0)Genome: 0.0% (AC=15, hom=0)22 overlapping SVs

14 papers

chr12:42144532 C>A

NM_173601.2

p.G39W

c.115G>T

Exome: 2.6% (AC=29669, hom=123)Genome: 0.6% (AC=606, hom=0)23 overlapping SVs

1 paper

chr12:42144600 A>G

NM_173601.2

p.F16S

c.47T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a22 overlapping SVs

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