Varaico: Literature-Extracted Genetic Variants

Gene:ATG12

ATG12

63 papers

RefSeq Summary

Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or...

Pfam Domains

APG12aa 54–140UCSCUbiquitin-like autophagy protein Apg12

Gene Aliases

HGNC Name

autophagy related 12

HGNC Previous Symbol

APG12L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
2 papers
NM_004707.4
p.M1L
c.1A>T
2 papers
NM_004707.4
p.M1L
c.1A>C
2 papers
NM_004707.4
p.I15V
c.43A>G
2 papers
NM_004707.4
p.E33*
c.97G>T
1 paper
NM_004707.4
p.M1V
c.1A>G
1 paper
NM_004707.4
p.M1_A2delFs
c.1_5del5
1 paper
NM_004707.4
p.Q6*
c.16C>T
1 paper
NM_004707.4
p.M1_P5del5
c.1_14del15
1 paper
NM_004707.4
p.S7insFs
c.19dupT
1 paper
NM_004707.4
p.L9insFs
c.27dupG
1 paper
NM_004707.4
p.L11P
c.32T>C
1 paper
NM_004707.4
p.E20K
c.58G>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."