AKR7A3

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			76 clinvar	4 clinvar	1 clinvar	81
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	77	5	1	83

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_012067.3	RefSeq	NP_036199.2	7	MANE Select
ENST00000361640.5	Ensembl	ENSP00000355377.4	7	MANE Select
ENST00000894619.1	Ensembl	ENSP00000564678.1	7	Standard
ENST00000894620.1	Ensembl	ENSP00000564679.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human)
Aflatoxin B1 metabolism
Metapathway biotransformation Phase I and II
Biological oxidations
Metabolism

Biological Process

cellular aldehyde metabolic process
xenobiotic metabolic process
electron transport chain
aflatoxin catabolic process

Molecular Function

alditol:NADP+ 1-oxidoreductase activity
aldo-keto reductase (NADP) activity
protein binding
electron transfer activity
identical protein binding

Cellular Component

cytosol
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000361640
Coding exons: 7
Length: 6693
Individuals with no LoFs: 125617
Homozygous LoFs: 0
Heterozygous LoFs: 131
Defined: 125748
p: 0.000521

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.166	217	210	1.03	0.0000131	2132
Missense (PolyPhen)		59	52.461	1.1246		596
Synonymous	-1.64	112	92.0	1.22	0.00000604	664
Loss of Function	-2.01	24	15.5	1.55	7.48e-7	166

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00087	0.00086	rare
Latino/Admixed American	0.00072	0.00072	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00038	0.00033	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00022	0.00022	rare
South Asian	0.0020	0.0020	notable
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen. {ECO:0000269|PubMed:18416522}.;

Recessive Scores

pRec: 0.114

Intolerance Scores

LoFtool: 0.935
RVIS EVS: 1.89
RVIS percentile EVS: 97.3

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.729

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	Medium	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High