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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALDH6A1

Variant:p.I14V

ALDH6A1

66 papers

RefSeq Summary

This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine...

Pfam Domains

Aldedhaa 48–512UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 6 family member A1

HGNC Previous Symbol

MMSDH

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr14:74084355 T>C

NM_005589.4

p.I14V

c.40A>G

exact variant not in gnomAD16 overlapping SVs

Surrounding Variants

1 paper

chr14:74084357 C>T

NM_005589.4

p.R13Q

c.38G>A

exact variant not in gnomAD16 overlapping SVs

1 paper

chr14:74084390 G>A

NM_005589.4

p.A2V

c.5C>T

Exome: 0.0% (AC=7, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr14:74084393 A>C

NM_005589.4

p.M1R

c.2T>G

exact variant not in gnomAD16 overlapping SVs

1 paper

chr14:74084394 T>C

NM_005589.4

p.M1V

c.1A>G

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=18, hom=0)16 overlapping SVs

1 paper

chr14:74075017 C>T

NM_005589.4

p.V17I

c.49G>A

Exome: 0.0% (AC=10, hom=0)Genome: n/a13 overlapping SVs

3 papers

chr14:74074969 A>T

NM_005589.4

p.F33I

c.97T>A

Exome: 0.0% (AC=160, hom=0)Genome: 0.0% (AC=18, hom=0)13 overlapping SVs

1 paper

chr14:74074968 A>G

NM_005589.4

p.F33S

c.98T>C

exact variant not in gnomAD13 overlapping SVs

1 paper

chr14:74074957 C>T

NM_005589.4

p.V37M

c.109G>A

Exome: 0.0% (AC=9, hom=0)Genome: n/a13 overlapping SVs

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