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

12 papers

NM_004849.4

p.K130R

c.389A>G

Surrounding Variants

1 paper

NM_004849.4

p.M129L

c.385A>T

1 paper

NM_004849.4

p.M129V

c.385A>G

1 paper

NM_004849.4

p.D133N

c.397G>A

2 papers

NM_004849.4

p.A134T

c.400G>A

1 paper

NM_004849.4

p.F125C

c.374T>G

1 paper

NM_004849.4

p.H124Y

c.370C>T

1 paper

NM_004849.4

p.L135_H137delFs

c.405_409del5

9 papers

NM_004849.4

p.E122D

c.366A>T

9 papers

NM_004849.4

p.E122D

c.366A>C

1 paper

NM_004849.4

p.K138insFs

c.412_413insT

1 paper

NM_004849.4

p.K138T

c.413A>C

1 paper

NM_004849.4

p.E122A

c.365A>C