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

3 papers

NM_004849.4

p.D163N

c.487G>A

Surrounding Variants

1 paper

NM_004849.4

p.D163V

c.488A>T

1 paper

NM_004849.4

p.D163delFs

c.488delT

1 paper

NM_004849.4

p.R161_D163del3

c.481_488del9

1 paper

NM_004849.4

p.R161I

c.482G>T

1 paper

NM_004849.4

p.R161K

c.482G>A

1 paper

NM_004849.4

p.F165L

c.493T>C

1 paper

NM_004849.4

p.R161fs

c.481_482fs

1 paper

NM_004849.4

p.F165L

c.495T>G

1 paper

NM_004849.4

p.F165L

c.495T>A

2 papers

NM_004849.4

p.R170W

c.508C>T

3 papers

NM_004849.4

p.R170Q

c.509G>A

1 paper

NM_004849.4

p.M173V

c.517A>G