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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AKR7A2

AKR7A2

72 papers

RefSeq Summary

The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 ...

Pfam Domains

Aldo_ket_redaa 41–348UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 7 member A2

HGNC Alias Symbol

AFAR

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 61 variants

12 papers

chr1:19308517 C>T

NM_003689.4

p.A142T

c.424G>A

Aldo_ket_red

Exome: 8.0% (AC=116218, hom=5221)Genome: 6.5% (AC=9927, hom=387)68 overlapping SVs

2 papers

chr1:19308582 C>T

NM_003689.4

p.R120Q

c.359G>A

Aldo_ket_red

Exome: 0.0% (AC=47, hom=0)Genome: 0.0% (AC=4, hom=0)68 overlapping SVs

2 papers

chr1:19307410 C>T

NM_003689.4

p.G198S

c.592G>A

Aldo_ket_red

Exome: 0.0% (AC=116, hom=3)Genome: 0.0% (AC=3, hom=0)69 overlapping SVs

2 papers

chr1:19307026 C>T

NM_003689.4

p.S255N

c.764G>A

Aldo_ket_red

Exome: 0.3% (AC=4189, hom=219)Genome: 3.0% (AC=4526, hom=246)68 overlapping SVs

2 papers

chr1:19306074 C>T

NM_003689.4

p.A288T

c.862G>A

Aldo_ket_red

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=1, hom=0)70 overlapping SVs

1 paper

chr1:19312111 G>A

NM_003689.4

p.A5V

c.14C>T

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=9, hom=0)68 overlapping SVs

1 paper

chr1:19312100 GAC>N

NM_003689.4

p.V9fs

c.25_26fs

exact variant not in gnomAD68 overlapping SVs

1 paper

chr1:19312095 G>GN

NM_003689.4

p.S10fs

c.28_29fs

exact variant not in gnomAD68 overlapping SVs

1 paper

chr1:19312089 G>T

NM_003689.4

p.A12A

c.36C>A

Exome: 4.1% (AC=48249, hom=1085)Genome: 2.7% (AC=4078, hom=59)68 overlapping SVs

1 paper

chr1:19312081 T>C

NM_003689.4

p.H15R

c.44A>G

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=4, hom=0)68 overlapping SVs

1 paper

chr1:19312072 A>T

NM_003689.4

p.L18H

c.53T>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a68 overlapping SVs

1 paper

chr1:19312063 G>T

NM_003689.4

p.P21Q

c.62C>A

Exome: 5.1% (AC=61935, hom=1764)Genome: 3.2% (AC=4800, hom=118)68 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."