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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALM

Variant:p.S133R

GALM

61 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The e...

Pfam Domains

Aldose_epimaa 20–338UCSCAldose 1-epimerase

Gene Aliases

HGNC Name

galactose mutarotase

HGNC Alias Names

aldose 1-epimerase; aldose mutarotase; galactomutarotase

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:38681333 T>A

NM_138801.3

p.S133R

c.399T>A

Aldose_epim

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=1, hom=0)103 overlapping SVs

Surrounding Variants

1 paper

chr2:38681333 T>G

NM_138801.3

p.S133R

c.399T>G

Aldose_epim

Exome: 0.0% (AC=1, hom=0)Genome: n/a103 overlapping SVs

1 paper

chr2:38681331 A>C

NM_138801.3

p.S133R

c.397A>C

Aldose_epim

exact variant not in gnomAD103 overlapping SVs

1 paper

chr2:38681326 G>A

NM_138801.3

p.R131H

c.392G>A

Aldose_epim

Exome: 0.0% (AC=95, hom=0)Genome: 0.0% (AC=16, hom=0)103 overlapping SVs

1 paper

chr2:38681325 C>A

NM_138801.3

p.R131S

c.391C>A

Aldose_epim

Exome: 0.0% (AC=14, hom=0)Genome: n/a103 overlapping SVs

2 papers

chr2:38681325 C>T

NM_138801.3

p.R131C

c.391C>T

Aldose_epim

Exome: 0.0% (AC=501, hom=1)Genome: 0.0% (AC=49, hom=0)103 overlapping SVs

2 papers

chr2:38681341 G>A

NM_138801.3

p.G136D

c.407G>A

Aldose_epim

Exome: 0.0% (AC=46, hom=1)Genome: 0.0% (AC=2, hom=0)103 overlapping SVs

1 paper

chr2:38681323 C>T

NM_138801.3

p.S130L

c.389C>T

Aldose_epim

Exome: 0.0% (AC=235, hom=0)Genome: 0.0% (AC=22, hom=0)103 overlapping SVs

1 paper

chr2:38681350 G>A

NM_138801.3

p.G139D

c.416G>A

Aldose_epim

exact variant not in gnomAD103 overlapping SVs

1 paper

chr2:38681353 A>G

NM_138801.3

p.Y140C

c.419A>G

Aldose_epim

Exome: 0.0% (AC=1, hom=0)Genome: n/a103 overlapping SVs

1 paper

chr2:38681313 G>A

NM_138801.3

p.V127I

c.379G>A

Aldose_epim

Exome: 0.0% (AC=130, hom=1)Genome: 0.0% (AC=19, hom=0)103 overlapping SVs

1 paper

chr2:38681356 C>T

NM_138801.3

p.P141L

c.422C>T

Aldose_epim

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)103 overlapping SVs

11 papers

chr2:38681358 G>A

NM_138801.3

p.G142R

c.424G>A

Aldose_epim

Exome: 0.0% (AC=321, hom=2)Genome: 0.2% (AC=276, hom=1)103 overlapping SVs

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