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.I243S

c.728T>G

Surrounding Variants

1 paper

NM_004849.4

p.G242insFs

c.726dupA

1 paper

NM_004849.4

p.G242R

c.724G>C

1 paper

NM_004849.4

p.G242R

c.724G>A

2 papers

NM_004849.4

p.P245A

c.733C>G

4 papers

NM_004849.4

p.H241Y

c.721C>T

1 paper

NM_004849.4

p.H241N

c.721C>A

1 paper

NM_004849.4

p.P245insFs

c.734_735insC

1 paper

NM_004849.4

p.M246V

c.736A>G

1 paper

NM_004849.4

p.I240insFs

c.718dupA

1 paper

NM_004849.4

p.I240S

c.719T>G

1 paper

NM_004849.4

p.M246I

c.738G>T

1 paper

NM_004849.4

p.M246I

c.738G>C