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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AFG1L

Variant:p.F455L

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

chr6:108522342 T>C

NM_145315.5

p.F455L

c.1363T>C

AFG1_ATPase

exact variant not in gnomAD83 overlapping SVs

Surrounding Variants

3 papers

chr6:108522344 T>A

NM_145315.5

p.F455L

c.1365T>A

AFG1_ATPase

exact variant not in gnomAD83 overlapping SVs

3 papers

chr6:108522344 T>G

NM_145315.5

p.F455L

c.1365T>G

AFG1_ATPase

Exome: 0.1% (AC=2162, hom=3)Genome: 0.1% (AC=194, hom=0)83 overlapping SVs

1 paper

chr6:108522354 C>T

NM_145315.5

p.R459C

c.1375C>T

AFG1_ATPase

Exome: 0.0% (AC=68, hom=0)Genome: 0.0% (AC=5, hom=0)83 overlapping SVs

1 paper

chr6:108522381 C>T

NM_145315.5

p.Q468*

c.1402C>T

AFG1_ATPase

exact variant not in gnomAD83 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."