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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXT2

EXT2

396 papers

RefSeq Summary

This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternativ...

Pfam Domains

Exostosin_GT47aa 100–380UCSCExostosin GT47 domain

Glyco_transf_64aa 456–701UCSCGlycosyl transferase family 64 domain

Gene Aliases

HGNC Name

exostosin glycosyltransferase 2

HGNC Alias Symbol

SOTV

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 674 variants

22 papers

chr11:44114237 G>A

NM_207122.2

p.D227N

c.679G>A

Exostosin_GT47

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)18 overlapping SVs

19 papers

chr11:44107779 C>T

NM_207122.2

p.R23*

c.67C>T

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)18 overlapping SVs

18 papers

chr11:44108226 C>T

NM_207122.2

p.Q172*

c.514C>T

Exostosin_GT47

exact variant not in gnomAD18 overlapping SVs

15 papers

chr11:44109201 C>T

NM_207122.2

p.R182*

c.544C>T

Exostosin_GT47

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)18 overlapping SVs

14 papers

chr11:44114226 G>C

NM_207122.2

p.R223P

c.668G>C

Exostosin_GT47

exact variant not in gnomAD18 overlapping SVs

11 papers

chr11:44107972 T>G

NM_207122.2

p.M87R

c.260T>G

Exome: 0.0% (AC=477, hom=1)Genome: 0.0% (AC=46, hom=0)18 overlapping SVs

11 papers

chr11:44130139 G>A

NM_207122.2

p.Q391_A392Splc

c.1173+1G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a18 overlapping SVs

10 papers

chr11:44124941 G>A

NM_207122.2

p.R299H

c.896G>A

Exostosin_GT47

Exome: 0.0% (AC=369, hom=3)Genome: 0.0% (AC=35, hom=0)19 overlapping SVs

9 papers

chr11:44107720 C>T

NM_207122.2

p.A3V

c.8C>T

Exome: 0.0% (AC=81, hom=0)Genome: 0.0% (AC=9, hom=0)18 overlapping SVs

8 papers

chr11:44107740 C>A

NM_207122.2

p.R10R

c.28C>A

Exome: 1.5% (AC=22314, hom=1474)Genome: 1.9% (AC=2925, hom=240)18 overlapping SVs

8 papers

chr11:44114224 C>G

NM_207122.2

p.Y222*

c.666C>G

Exostosin_GT47

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

8 papers

chr11:44126871 G>A

NM_207122.2

p.S332N

c.995G>A

Exostosin_GT47

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=5, hom=0)18 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."