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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATG4A

ATG4A

34 papers

RefSeq Summary

Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during diff...

Pfam Domains

Peptidase_C54aa 42–336UCSCPeptidase C54 catalytic domain

ATG4_LIRaa 369–396UCSCATG4, F-type LIR motif

Gene Aliases

HGNC Name

autophagy related 4A cysteine peptidase

HGNC Previous Symbols

AUTL2; APG4A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 36 variants

2 papers

chrX:108128813 C>T

NM_052936.5

p.R52C

c.154C>T

Peptidase_C54

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)47 overlapping SVs

2 papers

chrX:108131334 C>A

NM_052936.5

p.L90I

c.268C>A

Peptidase_C54

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=3, hom=0)47 overlapping SVs

2 papers

chrX:108150293 C>T

NM_052936.5

p.A319V

c.956C>T

Peptidase_C54

exact variant not in gnomAD48 overlapping SVs

1 paper

chrX:108126090 TGAAGATCAGATTACTATTTTCACTGACTACCTAGAAGAATATCCA>T

NM_052936.5

p.E9_P23del15

c.25_68del45

exact variant not in gnomAD47 overlapping SVs

1 paper

chrX:108128784 A>T

NM_052936.5

p.K42I

c.125A>T

Peptidase_C54

exact variant not in gnomAD47 overlapping SVs

1 paper

chrX:108128814 G>A

NM_052936.5

p.R52H

c.155G>A

Peptidase_C54

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=3, hom=0)47 overlapping SVs

1 paper

chrX:108131266 C>T

NM_052936.5

p.T67M

c.200C>T

Peptidase_C54

Exome: 0.0% (AC=108, hom=0)Genome: 0.0% (AC=12, hom=0)47 overlapping SVs

1 paper

chrX:108131289 T>A

NM_052936.5

p.W75R

c.223T>A

Peptidase_C54

exact variant not in gnomAD47 overlapping SVs

1 paper

chrX:108131301 C>A

NM_052936.5

p.L79I

c.235C>A

Peptidase_C54

exact variant not in gnomAD47 overlapping SVs

1 paper

chrX:108131355 A>T

NM_052936.5

p.R97W

c.289A>T

Peptidase_C54

exact variant not in gnomAD47 overlapping SVs

1 paper

chrX:108131359 G>T

NM_052936.5

p.D98Splc

c.292+1G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a47 overlapping SVs

1 paper

chrX:108134057 A>T

NM_052936.5

p.D98V

c.293A>T

Peptidase_C54

exact variant not in gnomAD47 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."