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.K54E

c.160A>G

Surrounding Variants

1 paper

NM_004849.4

p.K54M

c.161A>T

1 paper

NM_004849.4

p.K54R

c.161A>G

1 paper

NM_004849.4

p.K53*

c.157A>T

1 paper

NM_004849.4

p.K54_H55del1

c.161_163delGCT

1 paper

NM_004849.4

p.Q57*

c.169C>T

1 paper

NM_004849.4

p.Q57K

c.169C>A

1 paper

NM_004849.4

p.Q57H

c.171G>T

1 paper

NM_004849.4

p.Q57H

c.171G>C

1 paper

NM_004849.4

p.D50V

c.149A>T

4 papers

NM_004849.4

p.K58M

c.173A>T

1 paper

NM_004849.4

p.K58N

c.174G>T

2 papers

NM_004849.4

p.K58N

c.174G>C