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.Y190Y

c.570T>C

Surrounding Variants

1 paper

NM_004849.4

p.Q191_T192Splc

c.573+1G>A

1 paper

NM_004849.4

p.P186S

c.556C>T

1 paper

NM_004849.4

p.P186T

c.556C>A

1 paper

NM_004849.4

p.Y184delFs

c.551delT

1 paper

NM_004849.4

p.Y184insFs

c.550_551insC

1 paper

NM_004849.4

p.R183H

c.548G>A

1 paper

NM_004849.4

p.R183C

c.547C>T

1 paper

NM_004849.4

p.G181E

c.542G>A

1 paper

NM_004849.4

p.G181R

c.541G>C

1 paper

NM_004849.4

p.G181R

c.541G>A

1 paper

NM_004849.4

p.E179*

c.535G>T

1 paper

NM_004849.4

p.E178D

c.534A>T