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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXTL1

EXTL1

84 papers

RefSeq Summary

This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- ...

Pfam Domains

Exostosin_GT47aa 92–335UCSCExostosin GT47 domain

Glyco_transf_64aa 419–659UCSCGlycosyl transferase family 64 domain

Gene Aliases

HGNC Name

exostosin like glycosyltransferase 1

HGNC Alias Symbol

MGC70794

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 87 variants

12 papers

chr1:26031165 C>A

NM_004455.3

p.H379N

c.1135C>A

Exome: 69.0% (AC=1008527, hom=352617)Genome: 58.8% (AC=89455, hom=29279)84 overlapping SVs

4 papers

chr1:26029664 G>A

NM_004455.3

p.W313*

c.938G>A

Exostosin_GT47

Exome: 0.0% (AC=0, hom=0)Genome: n/a84 overlapping SVs

4 papers

chr1:26029665 G>A

NM_004455.3

p.W313*

c.939G>A

Exostosin_GT47

Exome: 0.2% (AC=2491, hom=2)Genome: 0.1% (AC=146, hom=0)84 overlapping SVs

2 papers

chr1:26023041 GCCT>G

NM_004455.3

p.C132_L133del1

c.396_398delCCT

Exostosin_GT47

Exome: 0.0% (AC=59, hom=0)Genome: 0.0% (AC=0, hom=0)84 overlapping SVs

2 papers

chr1:26023395 G>C

NM_004455.3

p.G250A

c.749G>C

Exostosin_GT47

Exome: 0.2% (AC=3128, hom=99)Genome: 2.2% (AC=3369, hom=122)84 overlapping SVs

2 papers

chr1:26029200 C>T

NM_004455.3

p.R263C

c.787C>T

Exostosin_GT47

Exome: 0.2% (AC=3644, hom=10)Genome: 0.2% (AC=284, hom=0)84 overlapping SVs

2 papers

chr1:26029201 G>A

NM_004455.3

p.R263H

c.788G>A

Exostosin_GT47

Exome: 0.2% (AC=2453, hom=1)Genome: 0.1% (AC=126, hom=0)84 overlapping SVs

2 papers

chr1:26030509 C>T

NM_004455.3

p.R339W

c.1015C>T

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=2, hom=0)84 overlapping SVs

2 papers

chr1:26031466 G>A

NM_004455.3

p.R414H

c.1241G>A

Exome: 0.0% (AC=14, hom=0)Genome: n/a84 overlapping SVs

2 papers

chr1:26033274 A>C

NM_004455.3

p.I493L

c.1477A>C

Glyco_transf_64

Exome: 0.1% (AC=826, hom=10)Genome: 0.0% (AC=36, hom=0)85 overlapping SVs

1 paper

chr1:26022650 C>T

NM_004455.3

p.Q2*

c.4C>T

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=10, hom=0)84 overlapping SVs

1 paper

chr1:26022654 C>T

NM_004455.3

p.S3L

c.8C>T

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)84 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."