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.M1_K5del5

c.1_14del15

Surrounding Variants

1 paper

NM_004849.4

p.D6Y

c.16G>T

1 paper

NM_004849.4

p.D6G

c.17A>G

1 paper

NM_004849.4

p.V7L

c.19G>T

1 paper

NM_004849.4

p.V7L

c.19G>C

1 paper

NM_004849.4

p.V7insFs

c.19dupG

1 paper

NM_004849.4

p.L8F

c.22C>T

1 paper

NM_004849.4

p.M1_T2delFs

c.1_5del5

1 paper

NM_004849.4

p.R9*

c.25C>T

1 paper

NM_004849.4

p.R9insFs

c.27dupA

1 paper

NM_004849.4

p.T2A

c.4A>G

1 paper

NM_004849.4

p.M1I

c.3G>T

1 paper

NM_004849.4

p.M1I

c.3G>C