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

3 papers

NM_004849.4

p.K235delFs

c.704delT

Surrounding Variants

1 paper

NM_004849.4

p.K235N

c.705G>T

1 paper

NM_004849.4

p.K235insFs

c.704dupA

1 paper

NM_004849.4

p.K235N

c.705G>C

1 paper

NM_004849.4

p.K235fs

c.703_704fs

1 paper

NM_004849.4

p.K235E

c.703A>G

1 paper

NM_004849.4

p.E233D

c.699A>T

1 paper

NM_004849.4

p.E233D

c.699A>C

1 paper

NM_004849.4

p.V238L

c.712G>T

1 paper

NM_004849.4

p.V238L

c.712G>C

1 paper

NM_004849.4

p.E233G

c.698A>G

1 paper

NM_004849.4

p.E233A

c.698A>C

4 papers

NM_004849.4

p.E233K

c.697G>A