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

Selected Variant

1 paper

NM_004849.4

p.P82L

c.245C>T

Surrounding Variants

1 paper

NM_004849.4

p.G84S

c.250G>A

1 paper

NM_004849.4

p.H80Y

c.238C>T

1 paper

NM_004849.4

p.D88N

c.262G>A

1 paper

NM_004849.4

p.D88A

c.263A>C

1 paper

NM_004849.4

p.L89I

c.265C>A

1 paper

NM_004849.4

p.L90F

c.268C>T

1 paper

NM_004849.4

p.L90V

c.268C>G

1 paper

NM_004849.4

p.A91V

c.272C>T

1 paper

NM_004849.4

p.A95D

c.284C>A

1 paper

NM_004849.4

p.L96F

c.286C>T

1 paper

NM_004849.4

p.L96V

c.286C>G

1 paper

NM_004849.4

p.W98insFs

c.292_293insA