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.S259R

c.775A>C

Surrounding Variants

1 paper

NM_004849.4

p.S259R

c.777C>G

1 paper

NM_004849.4

p.S259R

c.777C>A

1 paper

NM_004849.4

p.S259delFs

c.777delG

1 paper

NM_004849.4

p.H257R

c.770A>G

2 papers

NM_004849.4

p.P261L

c.782C>T

1 paper

NM_004849.4

p.N263fs

c.787_788fs

1 paper

NM_004849.4

p.N263D

c.787A>G

1 paper

NM_004849.4

p.N263insFs

c.787_788ins4

1 paper

NM_004849.4

p.L254Q

c.761T>A

1 paper

NM_004849.4

p.L265F

c.793C>T

1 paper

NM_004849.4

p.L265I

c.793C>A

1 paper

NM_004849.4

p.L251_Q252del1

c.752_754delGCA