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.S43I

c.128G>T

Surrounding Variants

1 paper

NM_004849.4

p.Y44N

c.130T>A

1 paper

NM_004849.4

p.V42insFs

c.125dupT

1 paper

NM_004849.4

p.Y44*

c.132T>A

1 paper

NM_004849.4

p.R41K

c.122G>A

1 paper

NM_004849.4

p.T46K

c.137C>A

1 paper

NM_004849.4

p.L39L

c.117G>A

1 paper

NM_004849.4

p.L38R

c.113T>G

1 paper

NM_004849.4

p.V48A

c.143T>C

1 paper

NM_004849.4

p.L37F

c.111G>T

1 paper

NM_004849.4

p.L37F

c.111G>C

1 paper

NM_004849.4

p.L37S

c.110T>C

1 paper

NM_004849.4

p.L37fs

c.109_110fs