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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALDH16A1

ALDH16A1

101 papers

RefSeq Summary

This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene ...

Pfam Domains

Aldedhaa 48–488UCSCAldehyde dehydrogenase family

Aldedhaa 538–774UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 16 family member A1

HGNC Alias Symbol

MGC10204

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 123 variants

15 papers

chr19:49465749 C>G

NM_153329.4

p.P527R

c.1580C>G

Aldedh

Exome: 0.2% (AC=2195, hom=4)Genome: 0.2% (AC=237, hom=1)8 overlapping SVs

4 papers

chr19:49459695 C>T

NM_153329.4

p.Q116*

c.346C>T

Aldedh

Exome: 0.0% (AC=2, hom=0)Genome: n/a8 overlapping SVs

4 papers

chr19:49461712 T>C

NM_153329.4

p.L224P

c.671T>C

Aldedh

Exome: 0.3% (AC=3825, hom=13)Genome: 0.2% (AC=333, hom=1)14 overlapping SVs

3 papers

chr19:49461720 C>G

NM_153329.4

p.L227V

c.679C>G

Aldedh

Exome: 68.2% (AC=994028, hom=347037)Genome: 62.4% (AC=94892, hom=30755)14 overlapping SVs

3 papers

chr19:49464461 A>T

NM_153329.4

p.D459V

c.1376A>T

Aldedh

Exome: 0.6% (AC=8269, hom=39)Genome: 0.4% (AC=648, hom=5)8 overlapping SVs

2 papers

chr19:49460854 T>C

NM_153329.4

p.S178P

c.532T>C

Aldedh

Exome: 0.0% (AC=577, hom=3)Genome: 0.0% (AC=69, hom=4)12 overlapping SVs

2 papers

chr19:49461658 C>T

NM_153329.4

p.A206V

c.617C>T

Aldedh

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=5, hom=0)14 overlapping SVs

2 papers

chr19:49461989 T>A

NM_153329.4

p.S289T

c.865T>A

Aldedh

Exome: 0.3% (AC=4337, hom=8)Genome: 0.2% (AC=292, hom=0)13 overlapping SVs

2 papers

chr19:49461995 G>A

NM_153329.4

p.V291M

c.871G>A

Aldedh

Exome: 0.3% (AC=4361, hom=8)Genome: 0.2% (AC=297, hom=0)13 overlapping SVs

2 papers

chr19:49462658 G>A

NM_153329.4

p.R334Q

c.1001G>A

Aldedh

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=5, hom=0)15 overlapping SVs

2 papers

chr19:49462729 C>T

NM_153329.4

p.R358C

c.1072C>T

Aldedh

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

2 papers

chr19:49464650 C>T

NM_153329.4

p.R486W

c.1456C>T

Aldedh

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=31, hom=0)8 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."