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.F70L

c.210T>A

Surrounding Variants

1 paper

NM_004849.4

p.E71Q

c.211G>C

1 paper

NM_004849.4

p.I68M

c.204A>G

1 paper

NM_004849.4

p.I68_W69insT

c.202_206ins3

1 paper

NM_004849.4

p.E67D

c.201G>T

1 paper

NM_004849.4

p.I65_E67insFs

c.193_200dup8

1 paper

NM_004849.4

p.E67D

c.201G>C

1 paper

NM_004849.4

p.S66I

c.197G>T

1 paper

NM_004849.4

p.S66N

c.197G>A

1 paper

NM_004849.4

p.S66C

c.196A>T

1 paper

NM_004849.4

p.I65T

c.194T>C

1 paper

NM_004849.4

p.P76Q

c.227C>A

1 paper

NM_004849.4

p.D64A

c.191A>C