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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AFG1L

Variant:p.I371V

AFG1L

33 papers

RefSeq Summary

This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in...

Pfam Domains

AFG1_ATPaseaa 74–433UCSCAFG1-like ATPase

Gene Aliases

HGNC Name

AFG1 like ATPase

HGNC Previous Symbol

LACE1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr6:108510260 A>G

NM_145315.5

p.I371V

c.1111A>G

AFG1_ATPase

Exome: 0.6% (AC=8517, hom=80)Genome: 0.5% (AC=805, hom=15)81 overlapping SVs

Surrounding Variants

1 paper

chr6:108510305 C>G

NM_145315.5

p.Q386E

c.1156C>G

AFG1_ATPase

Exome: 0.0% (AC=263, hom=0)Genome: 0.0% (AC=29, hom=0)82 overlapping SVs

1 paper

chr6:108510311 C>G

NM_145315.5

p.R388G

c.1162C>G

AFG1_ATPase

Exome: 0.0% (AC=1, hom=0)Genome: n/a82 overlapping SVs

1 paper

chr6:108510311 C>T

NM_145315.5

p.R388*

c.1162C>T

AFG1_ATPase

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)82 overlapping SVs

1 paper

chr6:108510344 G>A

NM_145315.5

p.D399N

c.1195G>A

AFG1_ATPase

Exome: 0.0% (AC=4, hom=0)Genome: n/a82 overlapping SVs

2 papers

chr6:108519717 G>A

NM_145315.5

p.A408A

c.1224G>A

AFG1_ATPase

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=7, hom=0)82 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."