Varaico: Literature-Extracted Genetic Variants

Gene:ATG4B
Variant:p.C361S

ATG4B

91 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 39–335UCSCPeptidase C54 catalytic domain
ATG4_LIRaa 363–391UCSCATG4, F-type LIR motif

Gene Aliases

HGNC Name

autophagy related 4B cysteine peptidase

HGNC Previous Symbol

APG4B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_013325.5
p.C361S
c.1082G>C
Surrounding Variants
2 papers
NM_013325.5
p.C361S
c.1081T>A
1 paper
NM_013325.5
p.D363fs
c.1087_1088fs
5 papers
NM_013325.5
p.L354Q
c.1061T>A
1 paper
NM_013325.5
p.D370Splc
c.1108+1G>A
1 paper
NM_013325.5
p.L342L
c.1026T>C
1 paper
NM_013325.5
p.L339L
c.1017G>A
1 paper
NM_013325.5
p.K338R
c.1013A>G
1 paper
NM_013325.5
p.K337R
c.1010A>G
3 papers
NM_013325.5
p.N330S
c.989A>G
1 paper
NM_013325.5
p.K324R
c.971A>G
1 paper
NM_013325.5
p.V319_G320Splc
c.958-166C>G
1 paper
NM_013325.5
p.R376*
c.1126C>T
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