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.R15*

c.43C>T

Surrounding Variants

1 paper

NM_004849.4

p.G14fs

c.40_41fs

1 paper

NM_004849.4

p.G14delFs

c.41delC

1 paper

NM_004849.4

p.G14*

c.40G>T

1 paper

NM_004849.4

p.G14R

c.40G>C

1 paper

NM_004849.4

p.W12_F13del1

c.36_38delAAC

1 paper

NM_004849.4

p.I16I

c.48T>A

1 paper

NM_004849.4

p.F13Y

c.38T>A

1 paper

NM_004849.4

p.W12delFs

c.34delA

1 paper

NM_004849.4

p.T18S

c.53C>G

1 paper

NM_004849.4

p.T18N

c.53C>A

1 paper

NM_004849.4

p.V11A

c.32T>C

1 paper

NM_004849.4

p.D10_V11delFs

c.28_31del4