Varaico: Literature-Extracted Genetic Variants

Gene:ATG4D

ATG4D

53 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 109–411UCSCPeptidase C54 catalytic domain

Gene Aliases

HGNC Name

autophagy related 4D cysteine peptidase

HGNC Previous Symbols

AUTL4; APG4D

Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
4 papers
NM_032885.6
p.S89N
c.266G>A
4 papers
NM_032885.6
p.S419_S420del1
c.1257_1259delCTC
3 papers
NM_032885.6
p.Y280C
c.839A>G
2 papers
NM_032885.6
p.Y354_L355del1
c.1062_1064delCCT
2 papers
NM_032885.6
p.D356N
c.1066G>A
2 papers
NM_032885.6
p.S420del1
c.1258_1259delTCA
2 papers
NM_032885.6
p.D437fs
c.1309_1310fs
1 paper
NM_032885.6
p.M1_S3del0
c.3_8del6
1 paper
NM_032885.6
p.S3_A8del6
c.7_23del18
1 paper
NM_032885.6
p.S3_A8del0
c.9_23del15
1 paper
NM_032885.6
p.A9_P23del15
c.25_68del45
1 paper
NM_032885.6
p.R20H
c.59G>A
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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."