Varaico: Literature-Extracted Genetic Variants

Gene:ATG4C
Variant:p.K326Q

ATG4C

65 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 76–400UCSCPeptidase C54 catalytic domain
ATG4_LIRaa 427–458UCSCATG4, F-type LIR motif

Gene Aliases

HGNC Name

autophagy related 4C cysteine peptidase

HGNC Previous Symbols

AUTL1; APG4C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_032852.4
p.K326Q
c.976A>C
Surrounding Variants
1 paper
NM_032852.4
p.Q329*
c.985C>T
1 paper
NM_032852.4
p.V320fs
c.958_959fs
1 paper
NM_032852.4
p.V320fs
c.958_959fs
1 paper
NM_032852.4
p.C319delFs
c.957delT
1 paper
NM_032852.4
p.C319fs
c.955_956fs
2 papers
NM_032852.4
p.V320delFs
c.959_960delTG
1 paper
NM_032852.4
p.G335E
c.1004G>A
1 paper
NM_032852.4
p.D338H
c.1012G>C
2 papers
NM_032852.4
p.D345N
c.1033G>A
1 paper
NM_032852.4
p.C349Y
c.1046G>A
1 paper
NM_032852.4
p.S351C
c.1052C>G
2 papers
NM_032852.4
p.V353A
c.1058T>C
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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."