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.K138insFs

c.412_413insT

Surrounding Variants

1 paper

NM_004849.4

p.L135_H137delFs

c.405_409del5

1 paper

NM_004849.4

p.K138T

c.413A>C

1 paper

NM_004849.4

p.S139N

c.416G>A

1 paper

NM_004849.4

p.V141I

c.421G>A

1 paper

NM_004849.4

p.K138_Q140del0

c.414_419del6

2 papers

NM_004849.4

p.V141A

c.422T>C

2 papers

NM_004849.4

p.A134T

c.400G>A

1 paper

NM_004849.4

p.I142V

c.424A>G

1 paper

NM_004849.4

p.I142I

c.426C>A

1 paper

NM_004849.4

p.D133N

c.397G>A

1 paper

NM_004849.4

p.E144*

c.430G>T

1 paper

NM_004849.4

p.E144Q

c.430G>C