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.G156R

c.466G>C

Surrounding Variants

1 paper

NM_004849.4

p.G156R

c.466G>A

1 paper

NM_004849.4

p.M155delFs

c.465delC

2 papers

NM_004849.4

p.M155V

c.463A>G

2 papers

NM_004849.4

p.W154C

c.462G>T

2 papers

NM_004849.4

p.W154C

c.462G>C

1 paper

NM_004849.4

p.Q158H

c.474A>T

1 paper

NM_004849.4

p.Q158H

c.474A>C

1 paper

NM_004849.4

p.L153I

c.457C>A

1 paper

NM_004849.4

p.N159delFs

c.476delT

2 papers

NM_004849.4

p.Q152*

c.454C>T

1 paper

NM_004849.4

p.Q152K

c.454C>A

1 paper

NM_004849.4

p.K151N

c.453G>T