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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXTL1

Variant:p.I311V

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

Selected Variant

1 paper

chr1:26029657 A>G

NM_004455.3

p.I311V

c.931A>G

Exostosin_GT47

exact variant not in gnomAD84 overlapping SVs

Surrounding Variants

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

1 paper

chr1:26029630 C>T

NM_004455.3

p.R302C

c.904C>T

Exostosin_GT47

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=4, hom=0)84 overlapping SVs

1 paper

chr1:26029695 G>C

NM_004455.3

p.R323S

c.969G>C

Exostosin_GT47

Exome: 0.0% (AC=13, hom=0)Genome: n/a84 overlapping SVs

1 paper

chr1:26029695 G>T

NM_004455.3

p.R323S

c.969G>T

Exostosin_GT47

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=1, hom=0)84 overlapping SVs

1 paper

chr1:26029700 C>T

NM_004455.3

p.P325L

c.974C>T

Exostosin_GT47

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=11, hom=0)84 overlapping SVs

1 paper

chr1:26029702 C>T

NM_004455.3

p.L326F

c.976C>T

Exostosin_GT47

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)84 overlapping SVs

1 paper

chr1:26029603 G>GT

NM_004455.3

p.G293insFs

c.877_878insT

Exostosin_GT47

exact variant not in gnomAD84 overlapping SVs

1 paper

chr1:26029265 G>A

NM_004455.3

p.S284S

c.852G>A

Exostosin_GT47

Exome: 0.2% (AC=3443, hom=13)Genome: 0.3% (AC=398, hom=2)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

chr1:26029200 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

1 paper

chr1:26030486 C>A

NM_004455.3

p.A331D

c.992C>A

Exostosin_GT47

Exome: 0.0% (AC=2, hom=0)Genome: n/a84 overlapping SVs

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