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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALDH2

ALDH2

619 papers

RefSeq Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of ald...

Pfam Domains

Aldedhaa 45–508UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 2 family member

HGNC Previous Name

aldehyde dehydrogenase 2 family (mitochondrial)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 534 variants

371 papers

chr12:111803962 G>A

NM_000690.4

p.E504K

c.1510G>A

Aldedh

Exome: 0.7% (AC=10123, hom=1239)Genome: 0.8% (AC=1193, hom=141)20 overlapping SVs

10 papers

chr12:111781924 A>G

NM_000690.4

p.I41V

c.121A>G

Exome: 0.0% (AC=554, hom=4)Genome: 0.2% (AC=241, hom=1)22 overlapping SVs

9 papers

chr12:111792609 G>A

NM_000690.4

p.V304M

c.910G>A

Aldedh

Exome: 0.1% (AC=811, hom=10)Genome: 0.0% (AC=69, hom=0)21 overlapping SVs

8 papers

chr12:111783295 G>A

NM_000690.4

p.L119L

c.357G>A

Aldedh

exact variant not in gnomAD22 overlapping SVs

7 papers

chr12:111783212 C>A

NM_000690.4

p.P92T

c.274C>A

Aldedh

Exome: 0.1% (AC=904, hom=9)Genome: 0.1% (AC=103, hom=1)22 overlapping SVs

7 papers

chr12:111792711 C>T

NM_000690.4

p.R338W

c.1012C>T

Aldedh

Exome: 0.0% (AC=300, hom=7)Genome: 0.0% (AC=70, hom=0)21 overlapping SVs

6 papers

chr12:111767051 G>A

NM_000690.4

p.Q23Q

c.69G>A

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=4, hom=0)20 overlapping SVs

6 papers

chr12:111783246 G>A

NM_000690.4

p.R103Q

c.308G>A

Aldedh

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=1, hom=0)22 overlapping SVs

6 papers

chr12:111791355 C>T

NM_000690.4

p.T244M

c.731C>T

Aldedh

Exome: 0.0% (AC=635, hom=4)Genome: 0.0% (AC=24, hom=0)21 overlapping SVs

5 papers

chr12:111783199 C>T

NM_000690.4

p.F87F

c.261C>T

Aldedh

exact variant not in gnomAD22 overlapping SVs

5 papers

chr12:111783298 G>A

NM_000690.4

p.A120A

c.360G>A

Aldedh

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=2, hom=0)22 overlapping SVs

5 papers

chr12:111792160 G>A

NM_000690.4

p.D299N

c.895G>A

Aldedh

Exome: 0.0% (AC=126, hom=0)Genome: 0.0% (AC=67, hom=0)21 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."