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

2 papers

NM_004849.4

p.R30insFs

c.88_89insG

Surrounding Variants

1 paper

NM_004849.4

p.T28T

c.84T>C

1 paper

NM_004849.4

p.T28T

c.84T>A

1 paper

NM_004849.4

p.E26K

c.76G>A

1 paper

NM_004849.4

p.P34T

c.100C>A

1 paper

NM_004849.4

p.Y35Y

c.105C>T

1 paper

NM_004849.4

p.Y23insFs

c.68_69insT

1 paper

NM_004849.4

p.T21M

c.62C>T

1 paper

NM_004849.4

p.T21S

c.61A>T

1 paper

NM_004849.4

p.T18S

c.53C>G

1 paper

NM_004849.4

p.T18N

c.53C>A

1 paper

NM_004849.4

p.I16I

c.48T>A

1 paper

NM_004849.4

p.R15*

c.43C>T