Varaico: Literature-Extracted Genetic Variants

ATG5

242 papers

RefSeq Summary

The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several...

Pfam Domains

ATG5_UblAaa 11–104UCSCAutophagy protein ATG5, UblA domain

ATG5_HBRaa 118–175UCSCAutophagy protein ATG5, alpha-helical bundle region

ATG5_UblBaa 184–269UCSCAutophagy protein ATG5, UblB domain

Gene Aliases

HGNC Name

autophagy related 5

HGNC Previous Symbol

APG5L

Papers

RefSeq ID

Protein change

DNA change

1–12 of 286 variants

12 papers

NM_004849.4

p.K130R

c.389A>G

9 papers

NM_004849.4

p.E122D

c.366A>T

9 papers

NM_004849.4

p.E122D

c.366A>C

4 papers

NM_004849.4

p.K58M

c.173A>T

4 papers

NM_004849.4

p.E233K

c.697G>A

4 papers

NM_004849.4

p.H241Y

c.721C>T

3 papers

NM_004849.4

p.D163N

c.487G>A

3 papers

NM_004849.4

p.R170Q

c.509G>A

3 papers

NM_004849.4

p.K235delFs

c.704delT

2 papers

NM_004849.4

p.R30insFs

c.88_89insG

2 papers

NM_004849.4

p.K58N

c.174G>C

2 papers

NM_004849.4

p.I100T

c.299T>C