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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GXYLT1

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

1–12 of 131 variants

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

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

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

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

10 papers

chr12:42105892 A>T

NM_173601.2

p.Y264N

c.790T>A

Glyco_transf_8

Exome: 0.0% (AC=207, hom=0)Genome: 0.5% (AC=522, hom=0)25 overlapping SVs

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

8 papers

chr12:42129816 T>A

NM_173601.2

p.Y86F

c.257A>T

exact variant not in gnomAD21 overlapping SVs

8 papers

chr12:42105936 T>C

NM_173601.2

p.E249G

c.746A>G

Glyco_transf_8

Exome: 0.2% (AC=1901, hom=0)Genome: 2.9% (AC=2171, hom=0)25 overlapping SVs

8 papers

chr12:42105888 T>C

NM_173601.2

p.Y265C

c.794A>G

Glyco_transf_8

Exome: 0.0% (AC=198, hom=0)Genome: 0.4% (AC=444, hom=0)25 overlapping SVs

7 papers

chr12:42144610 C>G

NM_173601.2

p.A13P

c.37G>C

exact variant not in gnomAD22 overlapping SVs

7 papers

chr12:42119108 T>A

NM_173601.2

p.R126S

c.378A>T

Glyco_transf_8

Exome: 6.5% (AC=76153, hom=1)Genome: 2.0% (AC=2225, hom=0)21 overlapping SVs

7 papers

chr12:42119108 T>G

NM_173601.2

p.R126S

c.378A>C

Glyco_transf_8

exact variant not in gnomAD21 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."